Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 64680517 64680517 + Missense_Mutation SNP T T G TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr1:64680517T>G c.359T>G c.(358-360)gTg>gGg p.V120G BLCA 1 64680524 64680524 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr1:64680524G>C c.366G>C c.(364-366)gaG>gaC p.E122D BLCA 1 64680524 64680524 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr1:64680524G>A c.366G>A c.(364-366)gaG>gaA p.E122E COAD 1 64671387 64671387 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:64671387G>T c.132G>T c.(130-132)caG>caT p.Q44H COAD 1 64672451 64672451 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:64672451A>G c.153A>G c.(151-153)ttA>ttG p.L51L COAD 1 64672525 64672525 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:64672525C>T c.227C>T c.(226-228)cCg>cTg p.P76L COAD 1 64672529 64672529 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:64672529T>G c.231T>G c.(229-231)ttT>ttG p.F77L COAD 1 64686585 64686585 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:64686585T>G c.501T>G c.(499-501)tgT>tgG p.C167W COAD 1 64707358 64707358 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:64707358G>A c.619G>A c.(619-621)Gga>Aga p.G207R COADREAD 1 64671387 64671387 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:64671387G>T c.132G>T c.(130-132)caG>caT p.Q44H COADREAD 1 64672451 64672451 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:64672451A>G c.153A>G c.(151-153)ttA>ttG p.L51L COADREAD 1 64672525 64672525 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:64672525C>T c.227C>T c.(226-228)cCg>cTg p.P76L COADREAD 1 64672529 64672529 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:64672529T>G c.231T>G c.(229-231)ttT>ttG p.F77L COADREAD 1 64686585 64686585 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:64686585T>G c.501T>G c.(499-501)tgT>tgG p.C167W COADREAD 1 64707358 64707358 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:64707358G>A c.619G>A c.(619-621)Gga>Aga p.G207R DLBC 1 64672478 64672478 + Silent SNP A A G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr1:64672478A>G c.180A>G c.(178-180)acA>acG p.T60T DLBC 1 64686577 64686577 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:64686577C>T c.493C>T c.(493-495)Cgt>Tgt p.R165C ESCA 1 64680522 64680522 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr1:64680522G>T c.364G>T c.(364-366)Gag>Tag p.E122* ESCA 1 64680571 64680571 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr1:64680571C>T c.413C>T c.(412-414)tCt>tTt p.S138F GBM 1 64707415 64707418 + Splice_Site DEL AAGT AAGT - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr1:64707415_64707418delAAGT c.676_677delAAGT c.(676-678)aag>g p.K226fs GBMLGG 1 64671402 64671402 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:64671402G>T c.147G>T c.(145-147)caG>caT p.Q49H GBMLGG 1 64707415 64707418 + Splice_Site DEL AAGT AAGT - TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr1:64707415_64707418delAAGT c.676_677delAAGT c.(676-678)aag>g p.K226fs LGG 1 64671402 64671402 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:64671402G>T c.147G>T c.(145-147)caG>caT p.Q49H LIHC 1 64676461 64676461 + Nonsense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:64676461T>A c.278T>A c.(277-279)tTg>tAg p.L93* LUAD 1 64671320 64671320 + Splice_Site SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 g.chr1:64671320A>G c.e2-1 LUAD 1 64671358 64671358 + Missense_Mutation SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr1:64671358G>A c.103G>A c.(103-105)Gaa>Aaa p.E35K LUSC 1 64669744 64669744 + Missense_Mutation SNP G G A TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr1:64669744G>A c.11G>A c.(10-12)aGa>aAa p.R4K PAAD 1 64676474 64676474 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:64676474G>T c.291G>T c.(289-291)gaG>gaT p.E97D PRAD 1 64698334 64698334 + Splice_Site SNP T T C TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:64698334T>C c.e7+2 SKCM 1 64671346 64671346 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:64671346G>A c.91G>A c.(91-93)Gaa>Aaa p.E31K SKCM 1 64671357 64671357 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:64671357G>A c.102G>A c.(100-102)atG>atA p.M34I SKCM 1 64671363 64671363 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr1:64671363G>A c.108G>A c.(106-108)tgG>tgA p.W36* SKCM 1 64672498 64672498 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:64672498C>T c.200C>T c.(199-201)cCt>cTt p.P67L SKCM 1 64672524 64672524 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:64672524C>T c.226C>T c.(226-228)Ccg>Tcg p.P76S SKCM 1 64698315 64698315 + Missense_Mutation SNP A A G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:64698315A>G c.578A>G c.(577-579)gAa>gGa p.E193G SKCM 1 64707407 64707407 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:64707407G>A c.668G>A c.(667-669)tGg>tAg p.W223*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 64664560 64664560 single base substitution G A upstream_gene_variant BRCA-EU 1 64664984 64664984 single base substitution G C upstream_gene_variant BRCA-EU 1 64666242 64666242 single base substitution T A upstream_gene_variant BRCA-EU 1 64667391 64667391 single base substitution C T upstream_gene_variant BRCA-EU 1 64667481 64667481 single base substitution T G upstream_gene_variant BRCA-EU 1 64668345 64668345 single base substitution C A upstream_gene_variant BRCA-EU 1 64669324 64669324 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 64669324 64669324 single base substitution G A upstream_gene_variant BRCA-EU 1 64669399 64669399 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 64669399 64669399 single base substitution C G upstream_gene_variant BRCA-EU 1 64669604 64669604 single base substitution T A 5_prime_UTR_variant BRCA-EU 1 64670185 64670185 insertion of <=200bp - C intron_variant BRCA-EU 1 64670189 64670189 single base substitution A T intron_variant BRCA-EU 1 64670391 64670391 single base substitution G A intron_variant BRCA-EU 1 64670841 64670841 single base substitution G C intron_variant BRCA-EU 1 64670975 64670975 single base substitution T C intron_variant BRCA-EU 1 64672050 64672050 single base substitution A T intron_variant BRCA-EU 1 64672818 64672818 single base substitution T G intron_variant BRCA-EU 1 64672844 64672844 deletion of <=200bp T - intron_variant BRCA-EU 1 64672844 64672844 insertion of <=200bp - T intron_variant BRCA-EU 1 64674511 64674511 single base substitution G A intron_variant BRCA-EU 1 64675003 64675003 deletion of <=200bp T - intron_variant BRCA-EU 1 64675172 64675172 single base substitution G T intron_variant BRCA-EU 1 64675891 64675891 single base substitution T C intron_variant BRCA-EU 1 64675891 64675891 single base substitution T C upstream_gene_variant BRCA-EU 1 64677232 64677232 single base substitution C G intron_variant BRCA-EU 1 64677232 64677232 single base substitution C G upstream_gene_variant BRCA-EU 1 64677492 64677492 single base substitution G C intron_variant BRCA-EU 1 64677492 64677492 single base substitution G C upstream_gene_variant BRCA-EU 1 64678462 64678462 single base substitution G T intron_variant BRCA-EU 1 64678462 64678462 single base substitution G T upstream_gene_variant BRCA-EU 1 64679099 64679099 single base substitution T C intron_variant BRCA-EU 1 64679099 64679099 single base substitution T C upstream_gene_variant BRCA-EU 1 64679399 64679399 single base substitution A G intron_variant BRCA-EU 1 64679399 64679399 single base substitution A G upstream_gene_variant BRCA-EU 1 64680203 64680203 single base substitution T C intron_variant BRCA-EU 1 64680203 64680203 single base substitution T C upstream_gene_variant BRCA-EU 1 64680497 64680497 single base substitution G C splice_acceptor_variant BRCA-EU 1 64680497 64680497 single base substitution G C upstream_gene_variant BRCA-EU 1 64680589 64680589 single base substitution T C missense_variant L144P 431T>C BRCA-EU 1 64680589 64680589 single base substitution T C missense_variant L31P 92T>C BRCA-EU 1 64680589 64680589 single base substitution T C upstream_gene_variant BRCA-EU 1 64682523 64682523 single base substitution G A intron_variant BRCA-EU 1 64682523 64682523 single base substitution G A upstream_gene_variant BRCA-EU 1 64682750 64682750 single base substitution T C intron_variant BRCA-EU 1 64682750 64682750 single base substitution T C upstream_gene_variant BRCA-EU 1 64682830 64682830 single base substitution A G intron_variant BRCA-EU 1 64682830 64682830 single base substitution A G upstream_gene_variant BRCA-EU 1 64683085 64683085 single base substitution G C intron_variant BRCA-EU 1 64683085 64683085 single base substitution G C upstream_gene_variant BRCA-EU 1 64683341 64683341 single base substitution G C intron_variant BRCA-EU 1 64683341 64683341 single base substitution G C upstream_gene_variant BRCA-EU 1 64684157 64684157 single base substitution G C intron_variant BRCA-EU 1 64684157 64684157 single base substitution G C upstream_gene_variant BRCA-EU 1 64684650 64684650 single base substitution G C intron_variant BRCA-EU 1 64684650 64684650 single base substitution G C upstream_gene_variant BRCA-EU 1 64685018 64685018 single base substitution C A intron_variant BRCA-EU 1 64685018 64685018 single base substitution C A upstream_gene_variant BRCA-EU 1 64685456 64685456 deletion of <=200bp T - intron_variant BRCA-EU 1 64685456 64685456 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 64685467 64685467 single base substitution G C intron_variant BRCA-EU 1 64685467 64685467 single base substitution G C upstream_gene_variant BRCA-EU 1 64686810 64686810 single base substitution C G intron_variant BRCA-EU 1 64686891 64686891 single base substitution T A intron_variant BRCA-EU 1 64686998 64686998 single base substitution G C intron_variant BRCA-EU 1 64687724 64687724 single base substitution G A intron_variant BRCA-EU 1 64689551 64689551 single base substitution A T intron_variant BRCA-EU 1 64689870 64689870 single base substitution A T intron_variant BRCA-EU 1 64692038 64692038 single base substitution G C intron_variant BRCA-EU 1 64692906 64692906 single base substitution G A intron_variant BRCA-EU 1 64692985 64692985 single base substitution T G intron_variant BRCA-EU 1 64693239 64693239 single base substitution C T intron_variant BRCA-EU 1 64694288 64694288 single base substitution A T intron_variant BRCA-EU 1 64694422 64694422 single base substitution G C intron_variant BRCA-EU 1 64694660 64694660 single base substitution C T intron_variant BRCA-EU 1 64694897 64694897 single base substitution C T intron_variant BRCA-EU 1 64695507 64695507 single base substitution T A intron_variant BRCA-EU 1 64697719 64697719 single base substitution G T intron_variant BRCA-EU 1 64700494 64700494 single base substitution T G intron_variant BRCA-EU 1 64700709 64700709 single base substitution C T intron_variant BRCA-EU 1 64700746 64700746 single base substitution A C intron_variant BRCA-EU 1 64701474 64701474 single base substitution G A intron_variant BRCA-EU 1 64702928 64702928 single base substitution C T intron_variant BRCA-EU 1 64704915 64704915 single base substitution T C intron_variant BRCA-EU 1 64705058 64705058 single base substitution T A intron_variant BRCA-EU 1 64706251 64706251 single base substitution A T intron_variant BRCA-EU 1 64706644 64706644 single base substitution A C intron_variant BRCA-EU 1 64707293 64707293 single base substitution A C intron_variant BRCA-EU 1 64708220 64708220 single base substitution G C intron_variant BRCA-EU 1 64708289 64708289 single base substitution G T intron_variant BRCA-EU 1 64708348 64708348 single base substitution C T intron_variant BRCA-EU 1 64708367 64708367 single base substitution C T intron_variant BRCA-EU 1 64708393 64708393 single base substitution C G intron_variant BRCA-EU 1 64708442 64708442 single base substitution C G intron_variant BRCA-EU 1 64708476 64708476 single base substitution C T intron_variant BRCA-EU 1 64709054 64709054 single base substitution C A intron_variant BRCA-EU 1 64709370 64709370 single base substitution A T intron_variant BRCA-EU 1 64709596 64709596 single base substitution T C intron_variant BRCA-EU 1 64709620 64709620 insertion of <=200bp - T intron_variant BRCA-EU 1 64712214 64712214 single base substitution G C downstream_gene_variant BRCA-EU 1 64712214 64712214 single base substitution G C intron_variant BRCA-EU 1 64713088 64713088 single base substitution C G downstream_gene_variant BRCA-EU 1 64713088 64713088 single base substitution C G intron_variant BRCA-EU 1 64713606 64713606 single base substitution C T downstream_gene_variant BRCA-EU 1 64713606 64713606 single base substitution C T intron_variant BRCA-EU 1 64715315 64715315 deletion of <=200bp A - intron_variant BRCA-EU 1 64717034 64717034 single base substitution A G intron_variant BRCA-EU 1 64718042 64718084 deletion of <=200bp AGGGTCCCCCTCAATGCAGCACATCTTCTCTACTAAAAAGCAG - intron_variant BRCA-EU 1 64718672 64718672 single base substitution A T intron_variant BRCA-EU 1 64718698 64718698 single base substitution G T intron_variant BRCA-EU 1 64719163 64719163 single base substitution G A intron_variant BRCA-EU 1 64719830 64719830 single base substitution G T intron_variant BRCA-EU 1 64719847 64719847 single base substitution G A intron_variant BRCA-EU 1 64720770 64720770 single base substitution T C intron_variant BRCA-EU 1 64722115 64722115 single base substitution T C intron_variant BRCA-EU 1 64723161 64723161 single base substitution G A intron_variant BRCA-EU 1 64723493 64723493 single base substitution A G intron_variant BRCA-EU 1 64725916 64725916 single base substitution G T intron_variant BRCA-EU 1 64726758 64726758 single base substitution G C downstream_gene_variant BRCA-EU 1 64726758 64726758 single base substitution G C intron_variant BRCA-EU 1 64726923 64726923 single base substitution T A downstream_gene_variant BRCA-EU 1 64726923 64726923 single base substitution T A intron_variant BRCA-EU 1 64727111 64727111 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 64727111 64727111 deletion of <=200bp A - intron_variant BRCA-EU 1 64727308 64727308 single base substitution G C downstream_gene_variant BRCA-EU 1 64727308 64727308 single base substitution G C intron_variant BRCA-EU 1 64727681 64727681 single base substitution C A downstream_gene_variant BRCA-EU 1 64727681 64727681 single base substitution C A intron_variant BRCA-EU 1 64727946 64727946 single base substitution T C downstream_gene_variant BRCA-EU 1 64727946 64727946 single base substitution T C intron_variant BRCA-EU 1 64730420 64730420 single base substitution G C downstream_gene_variant BRCA-EU 1 64730420 64730420 single base substitution G C intron_variant BRCA-EU 1 64731721 64731721 single base substitution G C intron_variant BRCA-EU 1 64731722 64731722 single base substitution C T intron_variant BRCA-EU 1 64732125 64732125 single base substitution C G intron_variant BRCA-EU 1 64732217 64732217 single base substitution G T intron_variant BRCA-EU 1 64734225 64734225 single base substitution C T downstream_gene_variant BRCA-EU 1 64734631 64734631 single base substitution G A downstream_gene_variant BRCA-EU 1 64734723 64734723 single base substitution G C downstream_gene_variant BRCA-EU 1 64735908 64735908 single base substitution G C downstream_gene_variant BRCA-EU 1 64736036 64736036 deletion of <=200bp A - downstream_gene_variant BRCA-FR 1 64669399 64669399 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 1 64669399 64669399 single base substitution C G upstream_gene_variant BRCA-FR 1 64701474 64701474 single base substitution G A intron_variant BRCA-FR 1 64704368 64704368 single base substitution A T intron_variant BRCA-FR 1 64708545 64708545 single base substitution G C intron_variant BRCA-FR 1 64709054 64709054 single base substitution C A intron_variant BRCA-FR 1 64709370 64709370 single base substitution A T intron_variant BRCA-FR 1 64723161 64723161 single base substitution G A intron_variant BRCA-FR 1 64731721 64731721 single base substitution G C intron_variant BRCA-FR 1 64731722 64731722 single base substitution C T intron_variant BRCA-FR 1 64731732 64731732 single base substitution G A intron_variant BRCA-UK 1 64673054 64673054 single base substitution G C intron_variant BRCA-UK 1 64677232 64677232 single base substitution C G intron_variant BRCA-UK 1 64677232 64677232 single base substitution C G upstream_gene_variant BRCA-UK 1 64700494 64700494 single base substitution T G intron_variant BRCA-UK 1 64712214 64712214 single base substitution G C downstream_gene_variant BRCA-UK 1 64712214 64712214 single base substitution G C intron_variant BRCA-UK 1 64717034 64717034 single base substitution A G intron_variant BRCA-UK 1 64718672 64718672 single base substitution A T intron_variant BTCA-JP 1 64672531 64672531 single base substitution A C missense_variant H78P 233A>C BTCA-JP 1 64709922 64709922 single base substitution A G 3_prime_UTR_variant BTCA-JP 1 64709922 64709922 single base substitution A G exon_variant BTCA-JP 1 64709922 64709922 single base substitution A G intron_variant CLLE-ES 1 64680114 64680114 single base substitution T A intron_variant CLLE-ES 1 64680114 64680114 single base substitution T A upstream_gene_variant CLLE-ES 1 64683215 64683215 single base substitution A G intron_variant CLLE-ES 1 64683215 64683215 single base substitution A G upstream_gene_variant CLLE-ES 1 64715626 64715626 single base substitution G A intron_variant CLLE-ES 1 64726889 64726889 single base substitution C A downstream_gene_variant CLLE-ES 1 64726889 64726889 single base substitution C A intron_variant CLLE-ES 1 64737132 64737132 single base substitution A C downstream_gene_variant COAD-US 1 64672451 64672451 single base substitution A G synonymous_variant L51L 153A>G COAD-US 1 64698332 64698332 single base substitution T C intron_variant COAD-US 1 64698332 64698332 single base substitution T C splice_region_variant COAD-US 1 64707358 64707358 single base substitution G A exon_variant COAD-US 1 64707358 64707358 single base substitution G A missense_variant G207R 619G>A COAD-US 1 64707358 64707358 single base substitution G A missense_variant G23R 67G>A COAD-US 1 64707358 64707358 single base substitution G A missense_variant G94R 280G>A COAD-US 1 64707375 64707375 single base substitution G T exon_variant COAD-US 1 64707375 64707375 single base substitution G T missense_variant W212C 636G>T COAD-US 1 64707375 64707375 single base substitution G T missense_variant W28C 84G>T COAD-US 1 64707375 64707375 single base substitution G T missense_variant W99C 297G>T COCA-CN 1 64671364 64671364 single base substitution G T stop_gained E37* 109G>T COCA-CN 1 64686455 64686455 single base substitution T G intron_variant COCA-CN 1 64686455 64686455 single base substitution T G upstream_gene_variant COCA-CN 1 64709824 64709824 single base substitution T G 3_prime_UTR_variant COCA-CN 1 64709824 64709824 single base substitution T G exon_variant COCA-CN 1 64709824 64709824 single base substitution T G intron_variant COCA-CN 1 64732891 64732891 single base substitution A G stop_retained_variant *134* 402A>G COCA-CN 1 64732891 64732891 single base substitution A G stop_retained_variant *205* 615A>G EOPC-DE 1 64669410 64669410 single base substitution G A 5_prime_UTR_variant EOPC-DE 1 64669410 64669410 single base substitution G A upstream_gene_variant ESAD-UK 1 64664924 64664924 single base substitution T A upstream_gene_variant ESAD-UK 1 64665021 64665021 single base substitution T C upstream_gene_variant ESAD-UK 1 64669475 64669475 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 64669475 64669475 single base substitution C T upstream_gene_variant ESAD-UK 1 64669585 64669585 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 64670621 64670621 single base substitution A G intron_variant ESAD-UK 1 64671460 64671460 single base substitution C T intron_variant ESAD-UK 1 64671586 64671586 single base substitution G T intron_variant ESAD-UK 1 64672858 64672858 single base substitution G C intron_variant ESAD-UK 1 64675012 64675012 single base substitution C T intron_variant ESAD-UK 1 64676685 64676685 single base substitution T A intron_variant ESAD-UK 1 64676685 64676685 single base substitution T A upstream_gene_variant ESAD-UK 1 64677130 64677130 single base substitution T C intron_variant ESAD-UK 1 64677130 64677130 single base substitution T C upstream_gene_variant ESAD-UK 1 64677610 64677610 single base substitution T C intron_variant ESAD-UK 1 64677610 64677610 single base substitution T C upstream_gene_variant ESAD-UK 1 64681503 64681503 insertion of <=200bp - CT intron_variant ESAD-UK 1 64682402 64682402 single base substitution G A intron_variant ESAD-UK 1 64682402 64682402 single base substitution G A upstream_gene_variant ESAD-UK 1 64686031 64686031 single base substitution G A intron_variant ESAD-UK 1 64686031 64686031 single base substitution G A upstream_gene_variant ESAD-UK 1 64688587 64688587 single base substitution T G intron_variant ESAD-UK 1 64689174 64689174 single base substitution T C intron_variant ESAD-UK 1 64690274 64690274 single base substitution C T intron_variant ESAD-UK 1 64692521 64692521 single base substitution C T intron_variant ESAD-UK 1 64694446 64694446 single base substitution C T intron_variant ESAD-UK 1 64694875 64694875 single base substitution A G intron_variant ESAD-UK 1 64695097 64695097 single base substitution T G intron_variant ESAD-UK 1 64695624 64695624 single base substitution G C intron_variant ESAD-UK 1 64696727 64696727 single base substitution T A intron_variant ESAD-UK 1 64698219 64698219 single base substitution G A intron_variant ESAD-UK 1 64703946 64703946 single base substitution G A intron_variant ESAD-UK 1 64704368 64704368 single base substitution A T intron_variant ESAD-UK 1 64704369 64704369 single base substitution T A intron_variant ESAD-UK 1 64705058 64705058 single base substitution T A intron_variant ESAD-UK 1 64708252 64708252 single base substitution T C intron_variant ESAD-UK 1 64708929 64708929 single base substitution C T intron_variant ESAD-UK 1 64712198 64712198 single base substitution T G downstream_gene_variant ESAD-UK 1 64712198 64712198 single base substitution T G intron_variant ESAD-UK 1 64712199 64712199 single base substitution T C downstream_gene_variant ESAD-UK 1 64712199 64712199 single base substitution T C intron_variant ESAD-UK 1 64712210 64712210 single base substitution T C downstream_gene_variant ESAD-UK 1 64712210 64712210 single base substitution T C intron_variant ESAD-UK 1 64717159 64717159 single base substitution C G intron_variant ESAD-UK 1 64717724 64717724 single base substitution G T intron_variant ESAD-UK 1 64724857 64724857 insertion of <=200bp - T intron_variant ESAD-UK 1 64725900 64725900 single base substitution T A intron_variant ESAD-UK 1 64728811 64728811 single base substitution C A downstream_gene_variant ESAD-UK 1 64728811 64728811 single base substitution C A intron_variant ESAD-UK 1 64734937 64734937 single base substitution A G downstream_gene_variant ESAD-UK 1 64735289 64735289 single base substitution G C downstream_gene_variant ESAD-UK 1 64735445 64735445 single base substitution G A downstream_gene_variant ESAD-UK 1 64735684 64735684 single base substitution G A downstream_gene_variant ESAD-UK 1 64736722 64736722 single base substitution G A downstream_gene_variant ESAD-UK 1 64737064 64737064 single base substitution C G downstream_gene_variant GBM-US 1 64707415 64707418 deletion of <=200bp AAGT - frameshift_variant K113 GBM-US 1 64707415 64707418 deletion of <=200bp AAGT - frameshift_variant K226 GBM-US 1 64707415 64707418 deletion of <=200bp AAGT - frameshift_variant K42 GBM-US 1 64707415 64707418 deletion of <=200bp AAGT - splice_donor_variant LAML-KR 1 64667384 64667384 single base substitution T C upstream_gene_variant LAML-KR 1 64702951 64702951 single base substitution C A intron_variant LICA-FR 1 64678752 64678752 single base substitution G A intron_variant LICA-FR 1 64678752 64678752 single base substitution G A upstream_gene_variant LICA-FR 1 64691786 64691786 single base substitution G T intron_variant LICA-FR 1 64703841 64703841 single base substitution A C intron_variant LICA-FR 1 64707375 64707375 single base substitution G A exon_variant LICA-FR 1 64707375 64707375 single base substitution G A stop_gained W212* 636G>A LICA-FR 1 64707375 64707375 single base substitution G A stop_gained W28* 84G>A LICA-FR 1 64707375 64707375 single base substitution G A stop_gained W99* 297G>A LICA-FR 1 64729518 64729518 single base substitution A T downstream_gene_variant LICA-FR 1 64729518 64729518 single base substitution A T intron_variant LICA-FR 1 64733816 64733816 single base substitution C A downstream_gene_variant LINC-JP 1 64671286 64671286 single base substitution A G intron_variant LINC-JP 1 64672569 64672569 single base substitution G C intron_variant LINC-JP 1 64677606 64677606 deletion of <=200bp A - intron_variant LINC-JP 1 64677606 64677606 deletion of <=200bp A - upstream_gene_variant LINC-JP 1 64679277 64679277 single base substitution A T intron_variant LINC-JP 1 64679277 64679277 single base substitution A T upstream_gene_variant LINC-JP 1 64680538 64680538 single base substitution T G missense_variant L127W 380T>G LINC-JP 1 64680538 64680538 single base substitution T G missense_variant L14W 41T>G LINC-JP 1 64680538 64680538 single base substitution T G upstream_gene_variant LINC-JP 1 64684606 64684606 single base substitution G T intron_variant LINC-JP 1 64684606 64684606 single base substitution G T upstream_gene_variant LINC-JP 1 64684607 64684607 single base substitution G T intron_variant LINC-JP 1 64684607 64684607 single base substitution G T upstream_gene_variant LINC-JP 1 64686603 64686603 single base substitution T C intron_variant LINC-JP 1 64687793 64687793 single base substitution C A intron_variant LINC-JP 1 64692554 64692554 single base substitution G T intron_variant LINC-JP 1 64697106 64697106 single base substitution C T intron_variant LINC-JP 1 64710842 64710842 single base substitution A G downstream_gene_variant LINC-JP 1 64710842 64710842 single base substitution A G intron_variant LINC-JP 1 64712769 64712769 single base substitution G T downstream_gene_variant LINC-JP 1 64712769 64712769 single base substitution G T intron_variant LINC-JP 1 64719960 64719960 single base substitution A G intron_variant LINC-JP 1 64729235 64729235 single base substitution G T downstream_gene_variant LINC-JP 1 64729235 64729235 single base substitution G T intron_variant LINC-JP 1 64729479 64729479 single base substitution G A downstream_gene_variant LINC-JP 1 64729479 64729479 single base substitution G A intron_variant LIRI-JP 1 64665688 64665688 single base substitution G T upstream_gene_variant LIRI-JP 1 64666081 64666081 single base substitution G T upstream_gene_variant LIRI-JP 1 64668740 64668740 single base substitution A G upstream_gene_variant LIRI-JP 1 64669432 64669432 single base substitution C A 5_prime_UTR_variant LIRI-JP 1 64669432 64669432 single base substitution C A upstream_gene_variant LIRI-JP 1 64670016 64670016 single base substitution T C intron_variant LIRI-JP 1 64671021 64671021 deletion of <=200bp G - intron_variant LIRI-JP 1 64671978 64671978 single base substitution G A intron_variant LIRI-JP 1 64672583 64672583 single base substitution A G intron_variant LIRI-JP 1 64672627 64672627 single base substitution T C intron_variant LIRI-JP 1 64674718 64674718 single base substitution A G intron_variant LIRI-JP 1 64674863 64674863 single base substitution T G intron_variant LIRI-JP 1 64675486 64675486 single base substitution C A intron_variant LIRI-JP 1 64677373 64677373 single base substitution C T intron_variant LIRI-JP 1 64677373 64677373 single base substitution C T upstream_gene_variant LIRI-JP 1 64677686 64677686 single base substitution G A intron_variant LIRI-JP 1 64677686 64677686 single base substitution G A upstream_gene_variant LIRI-JP 1 64678021 64678021 deletion of <=200bp A - intron_variant LIRI-JP 1 64678021 64678021 deletion of <=200bp A - upstream_gene_variant LIRI-JP 1 64680320 64680320 single base substitution T C intron_variant LIRI-JP 1 64680320 64680320 single base substitution T C upstream_gene_variant LIRI-JP 1 64680807 64680807 single base substitution G T intron_variant LIRI-JP 1 64680807 64680807 single base substitution G T upstream_gene_variant LIRI-JP 1 64680933 64680933 single base substitution C A intron_variant LIRI-JP 1 64680933 64680933 single base substitution C A upstream_gene_variant LIRI-JP 1 64681065 64681065 single base substitution G A intron_variant LIRI-JP 1 64681065 64681065 single base substitution G A upstream_gene_variant LIRI-JP 1 64681341 64681341 single base substitution A G intron_variant LIRI-JP 1 64681543 64681543 single base substitution T C intron_variant LIRI-JP 1 64682441 64682441 single base substitution G A intron_variant LIRI-JP 1 64682441 64682441 single base substitution G A upstream_gene_variant LIRI-JP 1 64683374 64683374 single base substitution C T intron_variant LIRI-JP 1 64683374 64683374 single base substitution C T upstream_gene_variant LIRI-JP 1 64684181 64684181 single base substitution C G intron_variant LIRI-JP 1 64684181 64684181 single base substitution C G upstream_gene_variant LIRI-JP 1 64686924 64686924 single base substitution A G intron_variant LIRI-JP 1 64689733 64689733 single base substitution G C intron_variant LIRI-JP 1 64690344 64690344 single base substitution T C intron_variant LIRI-JP 1 64690596 64690596 single base substitution T C intron_variant LIRI-JP 1 64691310 64691310 single base substitution G A intron_variant LIRI-JP 1 64692982 64692982 single base substitution A T intron_variant LIRI-JP 1 64694954 64694954 single base substitution G C intron_variant LIRI-JP 1 64697200 64697200 single base substitution T C intron_variant LIRI-JP 1 64697996 64697996 single base substitution A G intron_variant LIRI-JP 1 64698198 64698198 single base substitution A G intron_variant LIRI-JP 1 64698323 64698323 single base substitution A G exon_variant LIRI-JP 1 64698323 64698323 single base substitution A G intron_variant LIRI-JP 1 64698323 64698323 single base substitution A G missense_variant R196G 586A>G LIRI-JP 1 64698323 64698323 single base substitution A G missense_variant R83G 247A>G LIRI-JP 1 64698617 64698617 single base substitution G T intron_variant LIRI-JP 1 64701150 64701150 single base substitution A T intron_variant LIRI-JP 1 64702788 64702788 single base substitution T A intron_variant LIRI-JP 1 64704129 64704129 single base substitution T C intron_variant LIRI-JP 1 64704931 64704931 insertion of <=200bp - C intron_variant LIRI-JP 1 64706403 64706403 single base substitution T C intron_variant LIRI-JP 1 64707967 64707967 single base substitution T C intron_variant LIRI-JP 1 64710166 64710166 single base substitution G T downstream_gene_variant LIRI-JP 1 64710166 64710166 single base substitution G T intron_variant LIRI-JP 1 64710426 64710426 single base substitution T C downstream_gene_variant LIRI-JP 1 64710426 64710426 single base substitution T C intron_variant LIRI-JP 1 64710744 64710744 single base substitution T C downstream_gene_variant LIRI-JP 1 64710744 64710744 single base substitution T C intron_variant LIRI-JP 1 64711692 64711692 single base substitution A G downstream_gene_variant LIRI-JP 1 64711692 64711692 single base substitution A G intron_variant LIRI-JP 1 64712671 64712671 single base substitution G A downstream_gene_variant LIRI-JP 1 64712671 64712671 single base substitution G A intron_variant LIRI-JP 1 64714757 64714757 single base substitution T C downstream_gene_variant LIRI-JP 1 64714757 64714757 single base substitution T C intron_variant LIRI-JP 1 64714776 64714776 single base substitution C G downstream_gene_variant LIRI-JP 1 64714776 64714776 single base substitution C G intron_variant LIRI-JP 1 64714777 64714777 single base substitution C A downstream_gene_variant LIRI-JP 1 64714777 64714777 single base substitution C A intron_variant LIRI-JP 1 64717590 64717590 single base substitution T A intron_variant LIRI-JP 1 64719991 64719991 single base substitution G C intron_variant LIRI-JP 1 64721035 64721035 single base substitution G A intron_variant LIRI-JP 1 64721576 64721576 single base substitution T A intron_variant LIRI-JP 1 64722972 64722972 single base substitution C T intron_variant LIRI-JP 1 64723811 64723811 single base substitution T C intron_variant LIRI-JP 1 64725282 64725282 single base substitution T C intron_variant LIRI-JP 1 64726822 64726822 single base substitution G A downstream_gene_variant LIRI-JP 1 64726822 64726822 single base substitution G A intron_variant LIRI-JP 1 64727436 64727436 single base substitution T C downstream_gene_variant LIRI-JP 1 64727436 64727436 single base substitution T C intron_variant LIRI-JP 1 64728289 64728289 single base substitution G T downstream_gene_variant LIRI-JP 1 64728289 64728289 single base substitution G T intron_variant LIRI-JP 1 64729631 64729631 single base substitution G A downstream_gene_variant LIRI-JP 1 64729631 64729631 single base substitution G A intron_variant LIRI-JP 1 64730166 64730166 single base substitution A G downstream_gene_variant LIRI-JP 1 64730166 64730166 single base substitution A G intron_variant LIRI-JP 1 64730365 64730365 single base substitution G T downstream_gene_variant LIRI-JP 1 64730365 64730365 single base substitution G T intron_variant LIRI-JP 1 64730997 64730997 single base substitution C G downstream_gene_variant LIRI-JP 1 64730997 64730997 single base substitution C G intron_variant LIRI-JP 1 64731402 64731402 single base substitution C G intron_variant LIRI-JP 1 64731510 64731510 single base substitution C T intron_variant LIRI-JP 1 64732015 64732015 single base substitution T A intron_variant LIRI-JP 1 64734796 64734796 single base substitution A G downstream_gene_variant LIRI-JP 1 64734918 64734918 single base substitution T C downstream_gene_variant LIRI-JP 1 64734918 64734918 single base substitution T G downstream_gene_variant LIRI-JP 1 64734927 64734927 single base substitution A T downstream_gene_variant LIRI-JP 1 64734937 64734937 single base substitution A T downstream_gene_variant LIRI-JP 1 64736011 64736011 single base substitution C A downstream_gene_variant LIRI-JP 1 64737261 64737261 single base substitution G T downstream_gene_variant LIRI-JP 1 64737454 64737454 single base substitution T A downstream_gene_variant LIRI-JP 1 64737923 64737923 deletion of <=200bp T - downstream_gene_variant LUSC-KR 1 64666496 64666496 single base substitution T C upstream_gene_variant LUSC-KR 1 64666503 64666503 single base substitution A G upstream_gene_variant LUSC-KR 1 64666958 64666958 single base substitution C A upstream_gene_variant LUSC-KR 1 64667174 64667174 single base substitution T C upstream_gene_variant LUSC-KR 1 64667990 64667990 single base substitution G A upstream_gene_variant LUSC-KR 1 64669270 64669270 single base substitution G T upstream_gene_variant LUSC-KR 1 64669867 64669867 single base substitution T A intron_variant LUSC-KR 1 64670303 64670303 single base substitution T C intron_variant LUSC-KR 1 64672105 64672105 single base substitution G T intron_variant LUSC-KR 1 64672365 64672365 single base substitution G A intron_variant LUSC-KR 1 64674255 64674255 single base substitution C G intron_variant LUSC-KR 1 64676104 64676104 single base substitution A T intron_variant LUSC-KR 1 64676104 64676104 single base substitution A T upstream_gene_variant LUSC-KR 1 64676263 64676263 single base substitution T C intron_variant LUSC-KR 1 64676263 64676263 single base substitution T C upstream_gene_variant LUSC-KR 1 64679132 64679132 single base substitution A C intron_variant LUSC-KR 1 64679132 64679132 single base substitution A C upstream_gene_variant LUSC-KR 1 64687291 64687291 single base substitution C A intron_variant LUSC-KR 1 64691121 64691121 single base substitution G A intron_variant LUSC-KR 1 64692324 64692324 single base substitution G T intron_variant LUSC-KR 1 64694893 64694893 single base substitution G T intron_variant LUSC-KR 1 64695396 64695396 single base substitution G C intron_variant LUSC-KR 1 64696292 64696292 single base substitution G C intron_variant LUSC-KR 1 64697904 64697904 single base substitution A T intron_variant LUSC-KR 1 64698760 64698760 single base substitution A G intron_variant LUSC-KR 1 64702958 64702958 single base substitution T C intron_variant LUSC-KR 1 64703237 64703237 single base substitution C A intron_variant LUSC-KR 1 64703308 64703308 single base substitution T A intron_variant LUSC-KR 1 64704751 64704751 single base substitution G A intron_variant LUSC-KR 1 64708992 64708992 single base substitution G T intron_variant LUSC-KR 1 64709678 64709678 single base substitution A G intron_variant LUSC-KR 1 64711734 64711734 single base substitution A G downstream_gene_variant LUSC-KR 1 64711734 64711734 single base substitution A G intron_variant LUSC-KR 1 64716203 64716203 single base substitution C G intron_variant LUSC-KR 1 64719397 64719397 single base substitution G A intron_variant LUSC-KR 1 64726285 64726285 single base substitution G C splice_acceptor_variant LUSC-KR 1 64729736 64729736 single base substitution T A downstream_gene_variant LUSC-KR 1 64729736 64729736 single base substitution T A intron_variant LUSC-KR 1 64734865 64734865 single base substitution C A downstream_gene_variant LUSC-KR 1 64737963 64737963 single base substitution T C downstream_gene_variant LUSC-US 1 64669744 64669744 single base substitution G A missense_variant R4K 11G>A MALY-DE 1 64667331 64667331 deletion of <=200bp A - upstream_gene_variant MALY-DE 1 64672439 64672439 single base substitution T A splice_region_variant MALY-DE 1 64673068 64673068 single base substitution C A intron_variant MALY-DE 1 64674242 64674242 single base substitution G A intron_variant MALY-DE 1 64674443 64674443 single base substitution A C intron_variant MALY-DE 1 64679216 64679216 single base substitution A C intron_variant MALY-DE 1 64679216 64679216 single base substitution A C upstream_gene_variant MALY-DE 1 64683353 64683353 single base substitution T G intron_variant MALY-DE 1 64683353 64683353 single base substitution T G upstream_gene_variant MALY-DE 1 64683820 64683820 single base substitution T G intron_variant MALY-DE 1 64683820 64683820 single base substitution T G upstream_gene_variant MALY-DE 1 64686348 64686348 single base substitution A C intron_variant MALY-DE 1 64686348 64686348 single base substitution A C upstream_gene_variant MALY-DE 1 64690619 64690620 deletion of <=200bp CA - intron_variant MALY-DE 1 64691159 64691159 single base substitution T A intron_variant MALY-DE 1 64691406 64691406 single base substitution G C intron_variant MALY-DE 1 64692610 64692610 single base substitution A C intron_variant MALY-DE 1 64704369 64704369 single base substitution T A intron_variant MALY-DE 1 64704817 64704817 single base substitution A G intron_variant MALY-DE 1 64709311 64709311 single base substitution C T intron_variant MALY-DE 1 64712496 64712496 single base substitution A G downstream_gene_variant MALY-DE 1 64712496 64712496 single base substitution A G intron_variant MALY-DE 1 64714660 64714660 single base substitution A C downstream_gene_variant MALY-DE 1 64714660 64714660 single base substitution A C intron_variant MALY-DE 1 64716793 64716793 single base substitution A C intron_variant MALY-DE 1 64722709 64722709 single base substitution G T intron_variant MALY-DE 1 64722749 64722749 single base substitution A C intron_variant MALY-DE 1 64726106 64726106 single base substitution C T intron_variant MALY-DE 1 64728945 64728945 single base substitution A C downstream_gene_variant MALY-DE 1 64728945 64728945 single base substitution A C intron_variant MELA-AU 1 64664407 64664408 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 64664801 64664801 single base substitution G A upstream_gene_variant MELA-AU 1 64665025 64665025 single base substitution G A upstream_gene_variant MELA-AU 1 64665134 64665134 single base substitution G A upstream_gene_variant MELA-AU 1 64665415 64665415 single base substitution C T upstream_gene_variant MELA-AU 1 64665864 64665864 single base substitution C T upstream_gene_variant MELA-AU 1 64666732 64666732 single base substitution G A upstream_gene_variant MELA-AU 1 64666739 64666739 single base substitution G A upstream_gene_variant MELA-AU 1 64666751 64666751 single base substitution C T upstream_gene_variant MELA-AU 1 64666827 64666827 single base substitution C T upstream_gene_variant MELA-AU 1 64667009 64667009 single base substitution G A upstream_gene_variant MELA-AU 1 64667071 64667071 single base substitution C T upstream_gene_variant MELA-AU 1 64667099 64667099 single base substitution G A upstream_gene_variant MELA-AU 1 64667272 64667272 single base substitution G A upstream_gene_variant MELA-AU 1 64667342 64667342 single base substitution C T upstream_gene_variant MELA-AU 1 64667988 64667988 single base substitution C T upstream_gene_variant MELA-AU 1 64668177 64668177 single base substitution C T upstream_gene_variant MELA-AU 1 64668586 64668586 single base substitution G A upstream_gene_variant MELA-AU 1 64668681 64668681 single base substitution C A upstream_gene_variant MELA-AU 1 64668687 64668687 single base substitution G A upstream_gene_variant MELA-AU 1 64668705 64668705 single base substitution C T upstream_gene_variant MELA-AU 1 64668708 64668708 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 64669023 64669023 single base substitution G A upstream_gene_variant MELA-AU 1 64669044 64669044 single base substitution C T upstream_gene_variant MELA-AU 1 64669125 64669125 single base substitution C T upstream_gene_variant MELA-AU 1 64669269 64669269 single base substitution C T upstream_gene_variant MELA-AU 1 64669310 64669310 single base substitution G A 5_prime_UTR_variant MELA-AU 1 64669310 64669310 single base substitution G A upstream_gene_variant MELA-AU 1 64669431 64669431 single base substitution C T 5_prime_UTR_variant MELA-AU 1 64669431 64669431 single base substitution C T upstream_gene_variant MELA-AU 1 64669779 64669779 single base substitution C T missense_variant L16F 46C>T MELA-AU 1 64670008 64670008 single base substitution G A intron_variant MELA-AU 1 64670158 64670158 single base substitution C A intron_variant MELA-AU 1 64670423 64670423 single base substitution G A intron_variant MELA-AU 1 64670459 64670459 single base substitution C T intron_variant MELA-AU 1 64670636 64670636 single base substitution C T intron_variant MELA-AU 1 64671256 64671256 single base substitution G A intron_variant MELA-AU 1 64671323 64671323 single base substitution G A missense_variant G23D 68G>A MELA-AU 1 64671440 64671440 single base substitution G A intron_variant MELA-AU 1 64671467 64671467 single base substitution C T intron_variant MELA-AU 1 64671503 64671503 single base substitution C T intron_variant MELA-AU 1 64671625 64671625 single base substitution G A intron_variant MELA-AU 1 64671740 64671740 single base substitution A G intron_variant MELA-AU 1 64671746 64671746 single base substitution C T intron_variant MELA-AU 1 64672100 64672100 single base substitution G A intron_variant MELA-AU 1 64672180 64672180 single base substitution G A intron_variant MELA-AU 1 64672361 64672361 single base substitution C T intron_variant MELA-AU 1 64672524 64672524 single base substitution C T missense_variant P76S 226C>T MELA-AU 1 64672679 64672679 single base substitution G A intron_variant MELA-AU 1 64672721 64672721 single base substitution A T intron_variant MELA-AU 1 64672731 64672731 single base substitution A G intron_variant MELA-AU 1 64672768 64672768 single base substitution G A intron_variant MELA-AU 1 64672955 64672955 single base substitution T A intron_variant MELA-AU 1 64673199 64673199 single base substitution G A intron_variant MELA-AU 1 64673260 64673260 single base substitution C T intron_variant MELA-AU 1 64673361 64673361 single base substitution G A intron_variant MELA-AU 1 64673364 64673364 single base substitution C T intron_variant MELA-AU 1 64673472 64673472 single base substitution G A intron_variant MELA-AU 1 64673734 64673734 single base substitution C T intron_variant MELA-AU 1 64674151 64674151 single base substitution G A intron_variant MELA-AU 1 64674214 64674214 single base substitution G A intron_variant MELA-AU 1 64674341 64674341 single base substitution C T intron_variant MELA-AU 1 64674387 64674387 single base substitution C T intron_variant MELA-AU 1 64674399 64674399 single base substitution G A intron_variant MELA-AU 1 64674417 64674417 single base substitution C T intron_variant MELA-AU 1 64674627 64674628 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 64674777 64674777 single base substitution C T intron_variant MELA-AU 1 64674933 64674933 single base substitution C T intron_variant MELA-AU 1 64674953 64674953 single base substitution G A intron_variant MELA-AU 1 64674972 64674973 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 64675000 64675000 single base substitution C T intron_variant MELA-AU 1 64675002 64675002 single base substitution C T intron_variant MELA-AU 1 64675011 64675011 single base substitution T A intron_variant MELA-AU 1 64675059 64675059 single base substitution G A intron_variant MELA-AU 1 64675165 64675165 single base substitution C T intron_variant MELA-AU 1 64675172 64675172 single base substitution G A intron_variant MELA-AU 1 64675173 64675173 single base substitution G A intron_variant MELA-AU 1 64675338 64675338 single base substitution G A intron_variant MELA-AU 1 64675680 64675680 single base substitution C T intron_variant MELA-AU 1 64675680 64675680 single base substitution C T upstream_gene_variant MELA-AU 1 64675792 64675792 single base substitution C T intron_variant MELA-AU 1 64675792 64675792 single base substitution C T upstream_gene_variant MELA-AU 1 64675946 64675946 single base substitution G A intron_variant MELA-AU 1 64675946 64675946 single base substitution G A upstream_gene_variant MELA-AU 1 64676319 64676319 single base substitution G A intron_variant MELA-AU 1 64676319 64676319 single base substitution G A upstream_gene_variant MELA-AU 1 64676454 64676454 single base substitution G A missense_variant D91N 271G>A MELA-AU 1 64676454 64676454 single base substitution G A upstream_gene_variant MELA-AU 1 64676548 64676548 single base substitution C T intron_variant MELA-AU 1 64676548 64676548 single base substitution C T upstream_gene_variant MELA-AU 1 64676763 64676763 single base substitution A T intron_variant MELA-AU 1 64676763 64676763 single base substitution A T upstream_gene_variant MELA-AU 1 64676840 64676840 single base substitution C T intron_variant MELA-AU 1 64676840 64676840 single base substitution C T upstream_gene_variant MELA-AU 1 64677030 64677030 single base substitution C T intron_variant MELA-AU 1 64677030 64677030 single base substitution C T upstream_gene_variant MELA-AU 1 64677135 64677135 single base substitution C T intron_variant MELA-AU 1 64677135 64677135 single base substitution C T upstream_gene_variant MELA-AU 1 64677549 64677549 single base substitution T C intron_variant MELA-AU 1 64677549 64677549 single base substitution T C upstream_gene_variant MELA-AU 1 64677676 64677676 single base substitution T G intron_variant MELA-AU 1 64677676 64677676 single base substitution T G upstream_gene_variant MELA-AU 1 64677803 64677803 single base substitution G A intron_variant MELA-AU 1 64677803 64677803 single base substitution G A upstream_gene_variant MELA-AU 1 64678021 64678021 single base substitution A T intron_variant MELA-AU 1 64678021 64678021 single base substitution A T upstream_gene_variant MELA-AU 1 64678214 64678214 single base substitution G A intron_variant MELA-AU 1 64678214 64678214 single base substitution G A upstream_gene_variant MELA-AU 1 64678321 64678321 single base substitution G A intron_variant MELA-AU 1 64678321 64678321 single base substitution G A upstream_gene_variant MELA-AU 1 64678384 64678384 single base substitution G A intron_variant MELA-AU 1 64678384 64678384 single base substitution G A upstream_gene_variant MELA-AU 1 64678420 64678420 single base substitution C T intron_variant MELA-AU 1 64678420 64678420 single base substitution C T upstream_gene_variant MELA-AU 1 64678626 64678626 single base substitution G A intron_variant MELA-AU 1 64678626 64678626 single base substitution G A upstream_gene_variant MELA-AU 1 64678717 64678717 single base substitution C T intron_variant MELA-AU 1 64678717 64678717 single base substitution C T upstream_gene_variant MELA-AU 1 64678963 64678963 single base substitution G C intron_variant MELA-AU 1 64678963 64678963 single base substitution G C upstream_gene_variant MELA-AU 1 64679109 64679109 single base substitution G A intron_variant MELA-AU 1 64679109 64679109 single base substitution G A upstream_gene_variant MELA-AU 1 64679245 64679245 single base substitution C T intron_variant MELA-AU 1 64679245 64679245 single base substitution C T upstream_gene_variant MELA-AU 1 64679358 64679358 single base substitution G A intron_variant MELA-AU 1 64679358 64679358 single base substitution G A upstream_gene_variant MELA-AU 1 64679645 64679645 deletion of <=200bp G - intron_variant MELA-AU 1 64679645 64679645 deletion of <=200bp G - upstream_gene_variant MELA-AU 1 64679807 64679807 single base substitution C T intron_variant MELA-AU 1 64679807 64679807 single base substitution C T upstream_gene_variant MELA-AU 1 64679965 64679965 single base substitution G A intron_variant MELA-AU 1 64679965 64679965 single base substitution G A upstream_gene_variant MELA-AU 1 64680108 64680108 single base substitution C T intron_variant MELA-AU 1 64680108 64680108 single base substitution C T upstream_gene_variant MELA-AU 1 64680149 64680149 single base substitution T C intron_variant MELA-AU 1 64680149 64680149 single base substitution T C upstream_gene_variant MELA-AU 1 64680246 64680246 single base substitution G A intron_variant MELA-AU 1 64680246 64680246 single base substitution G A upstream_gene_variant MELA-AU 1 64680264 64680264 single base substitution G A intron_variant MELA-AU 1 64680264 64680264 single base substitution G A upstream_gene_variant MELA-AU 1 64680315 64680315 single base substitution G A intron_variant MELA-AU 1 64680315 64680315 single base substitution G A upstream_gene_variant MELA-AU 1 64680491 64680491 single base substitution C T splice_region_variant MELA-AU 1 64680491 64680491 single base substitution C T upstream_gene_variant MELA-AU 1 64680618 64680618 single base substitution A T intron_variant MELA-AU 1 64680618 64680618 single base substitution A T splice_region_variant MELA-AU 1 64680618 64680618 single base substitution A T upstream_gene_variant MELA-AU 1 64680734 64680734 single base substitution G A intron_variant MELA-AU 1 64680734 64680734 single base substitution G A upstream_gene_variant MELA-AU 1 64680908 64680908 single base substitution C T intron_variant MELA-AU 1 64680908 64680908 single base substitution C T upstream_gene_variant MELA-AU 1 64681108 64681108 single base substitution C T intron_variant MELA-AU 1 64681108 64681108 single base substitution C T upstream_gene_variant MELA-AU 1 64681379 64681379 single base substitution G A intron_variant MELA-AU 1 64681462 64681462 single base substitution G A intron_variant MELA-AU 1 64681515 64681515 single base substitution T A intron_variant MELA-AU 1 64681589 64681589 single base substitution C T intron_variant MELA-AU 1 64681589 64681589 single base substitution C T upstream_gene_variant MELA-AU 1 64681820 64681820 single base substitution G A intron_variant MELA-AU 1 64681820 64681820 single base substitution G A upstream_gene_variant MELA-AU 1 64681908 64681908 single base substitution G A intron_variant MELA-AU 1 64681908 64681908 single base substitution G A upstream_gene_variant MELA-AU 1 64681956 64681956 single base substitution C T intron_variant MELA-AU 1 64681956 64681956 single base substitution C T upstream_gene_variant MELA-AU 1 64682004 64682004 single base substitution G A intron_variant MELA-AU 1 64682004 64682004 single base substitution G A upstream_gene_variant MELA-AU 1 64682145 64682145 single base substitution T A intron_variant MELA-AU 1 64682145 64682145 single base substitution T A upstream_gene_variant MELA-AU 1 64682540 64682540 single base substitution C T intron_variant MELA-AU 1 64682540 64682540 single base substitution C T upstream_gene_variant MELA-AU 1 64682613 64682613 single base substitution G A intron_variant MELA-AU 1 64682613 64682613 single base substitution G A upstream_gene_variant MELA-AU 1 64682634 64682634 single base substitution C T intron_variant MELA-AU 1 64682634 64682634 single base substitution C T upstream_gene_variant MELA-AU 1 64683169 64683169 single base substitution C T intron_variant MELA-AU 1 64683169 64683169 single base substitution C T upstream_gene_variant MELA-AU 1 64683288 64683288 single base substitution A C intron_variant MELA-AU 1 64683288 64683288 single base substitution A C upstream_gene_variant MELA-AU 1 64683517 64683517 single base substitution A T intron_variant MELA-AU 1 64683517 64683517 single base substitution A T upstream_gene_variant MELA-AU 1 64683780 64683780 single base substitution C T intron_variant MELA-AU 1 64683780 64683780 single base substitution C T upstream_gene_variant MELA-AU 1 64684018 64684018 single base substitution C T intron_variant MELA-AU 1 64684018 64684018 single base substitution C T upstream_gene_variant MELA-AU 1 64684303 64684303 single base substitution G A intron_variant MELA-AU 1 64684303 64684303 single base substitution G A upstream_gene_variant MELA-AU 1 64684459 64684459 single base substitution G A intron_variant MELA-AU 1 64684459 64684459 single base substitution G A upstream_gene_variant MELA-AU 1 64684531 64684531 single base substitution C T intron_variant MELA-AU 1 64684531 64684531 single base substitution C T upstream_gene_variant MELA-AU 1 64684534 64684534 single base substitution C T intron_variant MELA-AU 1 64684534 64684534 single base substitution C T upstream_gene_variant MELA-AU 1 64684739 64684739 single base substitution C T intron_variant MELA-AU 1 64684739 64684739 single base substitution C T upstream_gene_variant MELA-AU 1 64684771 64684771 single base substitution G A intron_variant MELA-AU 1 64684771 64684771 single base substitution G A upstream_gene_variant MELA-AU 1 64684986 64684986 single base substitution C T intron_variant MELA-AU 1 64684986 64684986 single base substitution C T upstream_gene_variant MELA-AU 1 64685001 64685001 single base substitution C T intron_variant MELA-AU 1 64685001 64685001 single base substitution C T upstream_gene_variant MELA-AU 1 64685207 64685207 single base substitution C T intron_variant MELA-AU 1 64685207 64685207 single base substitution C T upstream_gene_variant MELA-AU 1 64685263 64685263 single base substitution C T intron_variant MELA-AU 1 64685263 64685263 single base substitution C T upstream_gene_variant MELA-AU 1 64685309 64685309 single base substitution C T intron_variant MELA-AU 1 64685309 64685309 single base substitution C T upstream_gene_variant MELA-AU 1 64685494 64685494 single base substitution G A intron_variant MELA-AU 1 64685494 64685494 single base substitution G A upstream_gene_variant MELA-AU 1 64685508 64685508 single base substitution C T intron_variant MELA-AU 1 64685508 64685508 single base substitution C T upstream_gene_variant MELA-AU 1 64686009 64686009 single base substitution G A intron_variant MELA-AU 1 64686009 64686009 single base substitution G A upstream_gene_variant MELA-AU 1 64686119 64686119 single base substitution C T intron_variant MELA-AU 1 64686119 64686119 single base substitution C T upstream_gene_variant MELA-AU 1 64686349 64686349 single base substitution G A intron_variant MELA-AU 1 64686349 64686349 single base substitution G A upstream_gene_variant MELA-AU 1 64686452 64686452 single base substitution C T intron_variant MELA-AU 1 64686452 64686452 single base substitution C T upstream_gene_variant MELA-AU 1 64686744 64686744 single base substitution G A intron_variant MELA-AU 1 64686817 64686817 single base substitution G A intron_variant MELA-AU 1 64686833 64686833 single base substitution C T intron_variant MELA-AU 1 64686919 64686919 single base substitution C T intron_variant MELA-AU 1 64687021 64687021 single base substitution C T intron_variant MELA-AU 1 64687128 64687128 single base substitution A T intron_variant MELA-AU 1 64687159 64687159 single base substitution C T intron_variant MELA-AU 1 64687331 64687331 single base substitution G A intron_variant MELA-AU 1 64687454 64687454 single base substitution C T intron_variant MELA-AU 1 64687653 64687653 single base substitution C T intron_variant MELA-AU 1 64687663 64687663 single base substitution G A intron_variant MELA-AU 1 64687956 64687956 single base substitution G A intron_variant MELA-AU 1 64688216 64688216 single base substitution C T intron_variant MELA-AU 1 64688583 64688583 single base substitution A G intron_variant MELA-AU 1 64689111 64689111 single base substitution C G intron_variant MELA-AU 1 64689388 64689388 single base substitution G A intron_variant MELA-AU 1 64689418 64689418 single base substitution G A intron_variant MELA-AU 1 64689510 64689510 single base substitution G A intron_variant MELA-AU 1 64689698 64689698 single base substitution G A intron_variant MELA-AU 1 64689836 64689836 single base substitution G A intron_variant MELA-AU 1 64690329 64690329 single base substitution C T intron_variant MELA-AU 1 64690696 64690696 single base substitution C T intron_variant MELA-AU 1 64690904 64690904 single base substitution A T intron_variant MELA-AU 1 64690917 64690917 single base substitution G A intron_variant MELA-AU 1 64690928 64690928 single base substitution G A intron_variant MELA-AU 1 64691059 64691059 single base substitution G A intron_variant MELA-AU 1 64691176 64691176 single base substitution G A intron_variant MELA-AU 1 64691323 64691323 single base substitution C T intron_variant MELA-AU 1 64691902 64691902 single base substitution G A intron_variant MELA-AU 1 64691981 64691981 single base substitution G A intron_variant MELA-AU 1 64692074 64692074 single base substitution G A intron_variant MELA-AU 1 64692219 64692219 single base substitution A T intron_variant MELA-AU 1 64692280 64692280 single base substitution C T intron_variant MELA-AU 1 64692479 64692479 single base substitution C T intron_variant MELA-AU 1 64692507 64692507 single base substitution C T intron_variant MELA-AU 1 64692527 64692527 single base substitution G A intron_variant MELA-AU 1 64692587 64692587 single base substitution C T intron_variant MELA-AU 1 64692665 64692665 single base substitution A G intron_variant MELA-AU 1 64692702 64692702 single base substitution G A intron_variant MELA-AU 1 64692801 64692801 single base substitution C T intron_variant MELA-AU 1 64693460 64693460 single base substitution C T intron_variant MELA-AU 1 64693488 64693488 single base substitution C T intron_variant MELA-AU 1 64693567 64693567 single base substitution G A intron_variant MELA-AU 1 64693670 64693670 single base substitution T A intron_variant MELA-AU 1 64693753 64693753 single base substitution C T intron_variant MELA-AU 1 64693832 64693832 single base substitution C T intron_variant MELA-AU 1 64693874 64693874 single base substitution C T intron_variant MELA-AU 1 64693939 64693939 single base substitution A G intron_variant MELA-AU 1 64694010 64694010 single base substitution G A intron_variant MELA-AU 1 64694575 64694575 single base substitution C T intron_variant MELA-AU 1 64694579 64694579 single base substitution C T intron_variant MELA-AU 1 64694607 64694607 single base substitution G A intron_variant MELA-AU 1 64694780 64694780 single base substitution G A intron_variant MELA-AU 1 64694874 64694874 single base substitution C T intron_variant MELA-AU 1 64695120 64695120 single base substitution C T intron_variant MELA-AU 1 64695160 64695161 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 64695172 64695172 single base substitution G A intron_variant MELA-AU 1 64695177 64695177 single base substitution G A intron_variant MELA-AU 1 64695376 64695376 single base substitution G A intron_variant MELA-AU 1 64695547 64695547 single base substitution T A intron_variant MELA-AU 1 64695901 64695901 single base substitution C T intron_variant MELA-AU 1 64695984 64695984 single base substitution G A intron_variant MELA-AU 1 64696130 64696130 single base substitution C T intron_variant MELA-AU 1 64696228 64696228 single base substitution C T intron_variant MELA-AU 1 64696289 64696289 single base substitution C T intron_variant MELA-AU 1 64696364 64696364 single base substitution T C intron_variant MELA-AU 1 64696638 64696638 single base substitution C T intron_variant MELA-AU 1 64696695 64696695 single base substitution T C intron_variant MELA-AU 1 64696883 64696883 single base substitution G A intron_variant MELA-AU 1 64696983 64696983 single base substitution C T intron_variant MELA-AU 1 64697629 64697629 single base substitution G A intron_variant MELA-AU 1 64697629 64697630 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 64697822 64697822 single base substitution C T intron_variant MELA-AU 1 64697839 64697839 single base substitution G A intron_variant MELA-AU 1 64698049 64698049 single base substitution C T intron_variant MELA-AU 1 64698162 64698162 single base substitution G A intron_variant MELA-AU 1 64698269 64698269 single base substitution G A exon_variant MELA-AU 1 64698269 64698269 single base substitution G A intron_variant MELA-AU 1 64698269 64698269 single base substitution G A missense_variant D178N 532G>A MELA-AU 1 64698269 64698269 single base substitution G A missense_variant D65N 193G>A MELA-AU 1 64698361 64698361 single base substitution C T intron_variant MELA-AU 1 64698714 64698714 single base substitution G A intron_variant MELA-AU 1 64698845 64698845 single base substitution C T intron_variant MELA-AU 1 64699385 64699385 single base substitution G A intron_variant MELA-AU 1 64699569 64699569 single base substitution G A intron_variant MELA-AU 1 64699616 64699616 single base substitution C T intron_variant MELA-AU 1 64699669 64699669 single base substitution G A intron_variant MELA-AU 1 64699850 64699850 single base substitution G A intron_variant MELA-AU 1 64700074 64700074 single base substitution G A intron_variant MELA-AU 1 64700623 64700623 single base substitution C T intron_variant MELA-AU 1 64700640 64700640 single base substitution G A intron_variant MELA-AU 1 64701027 64701027 single base substitution G A intron_variant MELA-AU 1 64701056 64701056 single base substitution C T intron_variant MELA-AU 1 64701200 64701200 single base substitution G A intron_variant MELA-AU 1 64701584 64701584 single base substitution C T intron_variant MELA-AU 1 64701731 64701731 single base substitution C T intron_variant MELA-AU 1 64701941 64701941 single base substitution C T intron_variant MELA-AU 1 64702020 64702020 single base substitution C T intron_variant MELA-AU 1 64702041 64702041 single base substitution T C intron_variant MELA-AU 1 64702271 64702271 single base substitution C T intron_variant MELA-AU 1 64702346 64702346 single base substitution C T intron_variant MELA-AU 1 64702457 64702457 single base substitution G A intron_variant MELA-AU 1 64702500 64702500 single base substitution C T intron_variant MELA-AU 1 64702608 64702608 single base substitution G A intron_variant MELA-AU 1 64703209 64703209 single base substitution C T intron_variant MELA-AU 1 64703426 64703426 single base substitution C T intron_variant MELA-AU 1 64703693 64703693 single base substitution C T intron_variant MELA-AU 1 64703909 64703909 single base substitution G A intron_variant MELA-AU 1 64703972 64703972 single base substitution C T intron_variant MELA-AU 1 64704011 64704011 single base substitution T G intron_variant MELA-AU 1 64704349 64704349 single base substitution G A intron_variant MELA-AU 1 64704382 64704382 single base substitution C T intron_variant MELA-AU 1 64704528 64704528 single base substitution C T intron_variant MELA-AU 1 64704613 64704613 single base substitution T G intron_variant MELA-AU 1 64705239 64705239 single base substitution C T intron_variant MELA-AU 1 64705457 64705457 single base substitution G A intron_variant MELA-AU 1 64705637 64705637 single base substitution C T intron_variant MELA-AU 1 64705821 64705821 single base substitution C T intron_variant MELA-AU 1 64706729 64706729 single base substitution G A intron_variant MELA-AU 1 64707737 64707737 single base substitution G A intron_variant MELA-AU 1 64708265 64708265 single base substitution G A intron_variant MELA-AU 1 64708354 64708354 single base substitution G A intron_variant MELA-AU 1 64708593 64708593 single base substitution C T intron_variant MELA-AU 1 64708716 64708716 single base substitution C T intron_variant MELA-AU 1 64708856 64708856 single base substitution C T intron_variant MELA-AU 1 64709233 64709233 single base substitution G A intron_variant MELA-AU 1 64709703 64709703 deletion of <=200bp T - intron_variant MELA-AU 1 64709811 64709811 single base substitution A C intron_variant MELA-AU 1 64709811 64709811 single base substitution A C splice_acceptor_variant MELA-AU 1 64709924 64709924 single base substitution G A 3_prime_UTR_variant MELA-AU 1 64709924 64709924 single base substitution G A exon_variant MELA-AU 1 64709924 64709924 single base substitution G A intron_variant MELA-AU 1 64709997 64709997 single base substitution G A 3_prime_UTR_variant MELA-AU 1 64709997 64709997 single base substitution G A exon_variant MELA-AU 1 64709997 64709997 single base substitution G A intron_variant MELA-AU 1 64710244 64710244 single base substitution A T downstream_gene_variant MELA-AU 1 64710244 64710244 single base substitution A T intron_variant MELA-AU 1 64710262 64710262 single base substitution C T downstream_gene_variant MELA-AU 1 64710262 64710262 single base substitution C T intron_variant MELA-AU 1 64710460 64710460 single base substitution G A downstream_gene_variant MELA-AU 1 64710460 64710460 single base substitution G A intron_variant MELA-AU 1 64710615 64710615 single base substitution C T downstream_gene_variant MELA-AU 1 64710615 64710615 single base substitution C T intron_variant MELA-AU 1 64710734 64710734 single base substitution G A downstream_gene_variant MELA-AU 1 64710734 64710734 single base substitution G A intron_variant MELA-AU 1 64710771 64710771 single base substitution A C downstream_gene_variant MELA-AU 1 64710771 64710771 single base substitution A C intron_variant MELA-AU 1 64711033 64711033 single base substitution C T downstream_gene_variant MELA-AU 1 64711033 64711033 single base substitution C T intron_variant MELA-AU 1 64711731 64711731 single base substitution C T downstream_gene_variant MELA-AU 1 64711731 64711731 single base substitution C T intron_variant MELA-AU 1 64711974 64711974 single base substitution G A downstream_gene_variant MELA-AU 1 64711974 64711974 single base substitution G A intron_variant MELA-AU 1 64712024 64712024 single base substitution C T downstream_gene_variant MELA-AU 1 64712024 64712024 single base substitution C T intron_variant MELA-AU 1 64712502 64712503 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 64712502 64712503 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 64712516 64712516 single base substitution C T downstream_gene_variant MELA-AU 1 64712516 64712516 single base substitution C T intron_variant MELA-AU 1 64712575 64712575 single base substitution A T downstream_gene_variant MELA-AU 1 64712575 64712575 single base substitution A T intron_variant MELA-AU 1 64712654 64712654 single base substitution G A downstream_gene_variant MELA-AU 1 64712654 64712654 single base substitution G A intron_variant MELA-AU 1 64712748 64712748 single base substitution G A downstream_gene_variant MELA-AU 1 64712748 64712748 single base substitution G A intron_variant MELA-AU 1 64713002 64713002 single base substitution G A downstream_gene_variant MELA-AU 1 64713002 64713002 single base substitution G A intron_variant MELA-AU 1 64713115 64713115 single base substitution G A downstream_gene_variant MELA-AU 1 64713115 64713115 single base substitution G A intron_variant MELA-AU 1 64713303 64713303 single base substitution T A downstream_gene_variant MELA-AU 1 64713303 64713303 single base substitution T A intron_variant MELA-AU 1 64713422 64713422 single base substitution C T downstream_gene_variant MELA-AU 1 64713422 64713422 single base substitution C T intron_variant MELA-AU 1 64713686 64713686 single base substitution C T downstream_gene_variant MELA-AU 1 64713686 64713686 single base substitution C T intron_variant MELA-AU 1 64713695 64713695 single base substitution G A downstream_gene_variant MELA-AU 1 64713695 64713695 single base substitution G A intron_variant MELA-AU 1 64713722 64713722 single base substitution C T downstream_gene_variant MELA-AU 1 64713722 64713722 single base substitution C T intron_variant MELA-AU 1 64713740 64713740 single base substitution C T downstream_gene_variant MELA-AU 1 64713740 64713740 single base substitution C T intron_variant MELA-AU 1 64713804 64713804 single base substitution G A downstream_gene_variant MELA-AU 1 64713804 64713804 single base substitution G A intron_variant MELA-AU 1 64713827 64713827 single base substitution C T downstream_gene_variant MELA-AU 1 64713827 64713827 single base substitution C T intron_variant MELA-AU 1 64713886 64713886 single base substitution C T downstream_gene_variant MELA-AU 1 64713886 64713886 single base substitution C T intron_variant MELA-AU 1 64713944 64713944 single base substitution G A downstream_gene_variant MELA-AU 1 64713944 64713944 single base substitution G A intron_variant MELA-AU 1 64713991 64713991 single base substitution G A downstream_gene_variant MELA-AU 1 64713991 64713991 single base substitution G A intron_variant MELA-AU 1 64715076 64715076 single base substitution A C intron_variant MELA-AU 1 64715162 64715162 single base substitution T C intron_variant MELA-AU 1 64715371 64715371 single base substitution C T intron_variant MELA-AU 1 64715742 64715742 single base substitution G A intron_variant MELA-AU 1 64715774 64715774 single base substitution C T intron_variant MELA-AU 1 64716000 64716000 single base substitution C A intron_variant MELA-AU 1 64716571 64716571 single base substitution G A intron_variant MELA-AU 1 64716676 64716676 single base substitution A G intron_variant MELA-AU 1 64716778 64716778 single base substitution C T intron_variant MELA-AU 1 64717152 64717152 single base substitution G A intron_variant MELA-AU 1 64717357 64717357 single base substitution G A intron_variant MELA-AU 1 64717376 64717376 single base substitution G A intron_variant MELA-AU 1 64717407 64717407 single base substitution C T intron_variant MELA-AU 1 64717539 64717539 single base substitution C T intron_variant MELA-AU 1 64717582 64717582 single base substitution C T intron_variant MELA-AU 1 64717588 64717588 single base substitution G A intron_variant MELA-AU 1 64717599 64717599 single base substitution C T intron_variant MELA-AU 1 64717695 64717695 single base substitution G A intron_variant MELA-AU 1 64717776 64717776 single base substitution G A intron_variant MELA-AU 1 64717956 64717956 single base substitution G A intron_variant MELA-AU 1 64718137 64718137 single base substitution G A intron_variant MELA-AU 1 64718288 64718288 single base substitution G A intron_variant MELA-AU 1 64718293 64718293 single base substitution G A intron_variant MELA-AU 1 64718312 64718312 single base substitution G A intron_variant MELA-AU 1 64718733 64718733 single base substitution C T intron_variant MELA-AU 1 64718756 64718756 single base substitution A G intron_variant MELA-AU 1 64718791 64718791 single base substitution C T intron_variant MELA-AU 1 64719033 64719033 single base substitution C T intron_variant MELA-AU 1 64719049 64719049 single base substitution C T intron_variant MELA-AU 1 64719053 64719053 single base substitution A G intron_variant MELA-AU 1 64719172 64719172 single base substitution G A intron_variant MELA-AU 1 64719186 64719186 single base substitution G A intron_variant MELA-AU 1 64719330 64719330 single base substitution C T intron_variant MELA-AU 1 64719352 64719352 single base substitution C T intron_variant MELA-AU 1 64719528 64719528 single base substitution A G intron_variant MELA-AU 1 64719576 64719576 single base substitution G A intron_variant MELA-AU 1 64719748 64719748 single base substitution G A intron_variant MELA-AU 1 64719768 64719768 single base substitution G A intron_variant MELA-AU 1 64719775 64719775 single base substitution G A intron_variant MELA-AU 1 64719797 64719797 single base substitution C T intron_variant MELA-AU 1 64719821 64719821 single base substitution A G intron_variant MELA-AU 1 64720031 64720031 single base substitution C T intron_variant MELA-AU 1 64720884 64720884 single base substitution C T intron_variant MELA-AU 1 64720911 64720911 single base substitution C T intron_variant MELA-AU 1 64720917 64720917 single base substitution C T intron_variant MELA-AU 1 64721064 64721064 single base substitution A T intron_variant MELA-AU 1 64721150 64721150 single base substitution G A intron_variant MELA-AU 1 64721185 64721185 single base substitution A G intron_variant MELA-AU 1 64721201 64721201 single base substitution C T intron_variant MELA-AU 1 64721370 64721370 single base substitution C T intron_variant MELA-AU 1 64721602 64721602 single base substitution G A intron_variant MELA-AU 1 64721828 64721828 single base substitution C T intron_variant MELA-AU 1 64722520 64722520 single base substitution A T intron_variant MELA-AU 1 64722523 64722523 single base substitution G A intron_variant MELA-AU 1 64722889 64722889 single base substitution T C intron_variant MELA-AU 1 64723004 64723004 single base substitution T C intron_variant MELA-AU 1 64723034 64723034 single base substitution G A intron_variant MELA-AU 1 64723137 64723137 single base substitution C T intron_variant MELA-AU 1 64723226 64723226 single base substitution G A intron_variant MELA-AU 1 64723302 64723302 single base substitution G A intron_variant MELA-AU 1 64723372 64723372 single base substitution G A intron_variant MELA-AU 1 64723526 64723526 single base substitution A T intron_variant MELA-AU 1 64723554 64723554 single base substitution G A intron_variant MELA-AU 1 64723559 64723559 single base substitution G A intron_variant MELA-AU 1 64724192 64724193 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 64724424 64724424 single base substitution T C intron_variant MELA-AU 1 64724563 64724563 single base substitution C T intron_variant MELA-AU 1 64724972 64724972 single base substitution G A intron_variant MELA-AU 1 64725238 64725238 single base substitution C T intron_variant MELA-AU 1 64725261 64725261 single base substitution G A intron_variant MELA-AU 1 64725328 64725328 single base substitution C T intron_variant MELA-AU 1 64725410 64725410 single base substitution C T intron_variant MELA-AU 1 64725577 64725577 single base substitution C T intron_variant MELA-AU 1 64725608 64725608 single base substitution C T intron_variant MELA-AU 1 64725673 64725673 single base substitution G A intron_variant MELA-AU 1 64725761 64725761 single base substitution A T intron_variant MELA-AU 1 64726251 64726251 single base substitution C T intron_variant MELA-AU 1 64726471 64726471 single base substitution G A downstream_gene_variant MELA-AU 1 64726471 64726471 single base substitution G A intron_variant MELA-AU 1 64726626 64726626 single base substitution G A downstream_gene_variant MELA-AU 1 64726626 64726626 single base substitution G A intron_variant MELA-AU 1 64727505 64727505 single base substitution G A downstream_gene_variant MELA-AU 1 64727505 64727505 single base substitution G A intron_variant MELA-AU 1 64727659 64727659 single base substitution A G downstream_gene_variant MELA-AU 1 64727659 64727659 single base substitution A G intron_variant MELA-AU 1 64727812 64727812 single base substitution C T downstream_gene_variant MELA-AU 1 64727812 64727812 single base substitution C T intron_variant MELA-AU 1 64727906 64727906 single base substitution C T downstream_gene_variant MELA-AU 1 64727906 64727906 single base substitution C T intron_variant MELA-AU 1 64728049 64728050 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 64728049 64728050 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 64728318 64728318 single base substitution C T downstream_gene_variant MELA-AU 1 64728318 64728318 single base substitution C T intron_variant MELA-AU 1 64728454 64728454 single base substitution G A downstream_gene_variant MELA-AU 1 64728454 64728454 single base substitution G A intron_variant MELA-AU 1 64728562 64728562 single base substitution C T downstream_gene_variant MELA-AU 1 64728562 64728562 single base substitution C T intron_variant MELA-AU 1 64728696 64728696 single base substitution C T downstream_gene_variant MELA-AU 1 64728696 64728696 single base substitution C T intron_variant MELA-AU 1 64728700 64728700 single base substitution C T downstream_gene_variant MELA-AU 1 64728700 64728700 single base substitution C T intron_variant MELA-AU 1 64728730 64728730 single base substitution C T downstream_gene_variant MELA-AU 1 64728730 64728730 single base substitution C T intron_variant MELA-AU 1 64728823 64728823 single base substitution C T downstream_gene_variant MELA-AU 1 64728823 64728823 single base substitution C T intron_variant MELA-AU 1 64728835 64728835 single base substitution G A downstream_gene_variant MELA-AU 1 64728835 64728835 single base substitution G A intron_variant MELA-AU 1 64728846 64728846 single base substitution C T downstream_gene_variant MELA-AU 1 64728846 64728846 single base substitution C T intron_variant MELA-AU 1 64729356 64729356 single base substitution G A downstream_gene_variant MELA-AU 1 64729356 64729356 single base substitution G A intron_variant MELA-AU 1 64729492 64729492 single base substitution G A downstream_gene_variant MELA-AU 1 64729492 64729492 single base substitution G A intron_variant MELA-AU 1 64729737 64729737 single base substitution G A downstream_gene_variant MELA-AU 1 64729737 64729737 single base substitution G A intron_variant MELA-AU 1 64730034 64730034 single base substitution C T downstream_gene_variant MELA-AU 1 64730034 64730034 single base substitution C T intron_variant MELA-AU 1 64730065 64730065 single base substitution C T downstream_gene_variant MELA-AU 1 64730065 64730065 single base substitution C T intron_variant MELA-AU 1 64730103 64730103 single base substitution C T downstream_gene_variant MELA-AU 1 64730103 64730103 single base substitution C T intron_variant MELA-AU 1 64730332 64730332 single base substitution C T downstream_gene_variant MELA-AU 1 64730332 64730332 single base substitution C T intron_variant MELA-AU 1 64730559 64730559 single base substitution G A downstream_gene_variant MELA-AU 1 64730559 64730559 single base substitution G A intron_variant MELA-AU 1 64730814 64730814 single base substitution G A downstream_gene_variant MELA-AU 1 64730814 64730814 single base substitution G A intron_variant MELA-AU 1 64731475 64731475 single base substitution G A intron_variant MELA-AU 1 64731616 64731616 single base substitution C T intron_variant MELA-AU 1 64732697 64732697 single base substitution C T intron_variant MELA-AU 1 64732910 64732910 single base substitution C T 3_prime_UTR_variant MELA-AU 1 64733095 64733095 single base substitution G T downstream_gene_variant MELA-AU 1 64733195 64733195 single base substitution G A downstream_gene_variant MELA-AU 1 64733765 64733765 single base substitution C T downstream_gene_variant MELA-AU 1 64735427 64735427 single base substitution G A downstream_gene_variant MELA-AU 1 64735584 64735584 single base substitution C T downstream_gene_variant MELA-AU 1 64735782 64735782 single base substitution C T downstream_gene_variant MELA-AU 1 64735811 64735811 single base substitution G A downstream_gene_variant MELA-AU 1 64736237 64736238 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 1 64737290 64737290 single base substitution C T downstream_gene_variant MELA-AU 1 64737314 64737314 single base substitution G A downstream_gene_variant MELA-AU 1 64737320 64737320 single base substitution C T downstream_gene_variant MELA-AU 1 64737664 64737664 single base substitution G A downstream_gene_variant MELA-AU 1 64737746 64737746 single base substitution C T downstream_gene_variant MELA-AU 1 64737875 64737875 single base substitution C T downstream_gene_variant MELA-AU 1 64737899 64737899 single base substitution C T downstream_gene_variant MELA-AU 1 64737986 64737986 single base substitution A T downstream_gene_variant MELA-AU 1 64738050 64738050 single base substitution G A downstream_gene_variant ORCA-IN 1 64691106 64691106 single base substitution C T intron_variant ORCA-IN 1 64692726 64692726 single base substitution G A intron_variant ORCA-IN 1 64709315 64709315 single base substitution G C intron_variant ORCA-IN 1 64734917 64734917 single base substitution C T downstream_gene_variant ORCA-IN 1 64738050 64738050 single base substitution G A downstream_gene_variant OV-AU 1 64665789 64665789 single base substitution C A upstream_gene_variant OV-AU 1 64669695 64669695 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 1 64670090 64670090 single base substitution G C intron_variant OV-AU 1 64674286 64674286 single base substitution C T intron_variant OV-AU 1 64675062 64675062 single base substitution A C intron_variant OV-AU 1 64675745 64675745 single base substitution T A intron_variant OV-AU 1 64675745 64675745 single base substitution T A upstream_gene_variant OV-AU 1 64694725 64694725 single base substitution G A intron_variant OV-AU 1 64697818 64697818 single base substitution T A intron_variant OV-AU 1 64701813 64701813 single base substitution C A intron_variant OV-AU 1 64710281 64710281 single base substitution A G downstream_gene_variant OV-AU 1 64710281 64710281 single base substitution A G intron_variant OV-AU 1 64713249 64713249 single base substitution G A downstream_gene_variant OV-AU 1 64713249 64713249 single base substitution G A intron_variant OV-AU 1 64721912 64721912 single base substitution A G intron_variant OV-AU 1 64725531 64725531 single base substitution C A intron_variant OV-AU 1 64729639 64729639 single base substitution C T downstream_gene_variant OV-AU 1 64729639 64729639 single base substitution C T intron_variant OV-AU 1 64732057 64732057 single base substitution C T intron_variant OV-AU 1 64733120 64733120 single base substitution G A downstream_gene_variant OV-AU 1 64733176 64733176 single base substitution G C downstream_gene_variant OV-AU 1 64736792 64736792 single base substitution G C downstream_gene_variant PACA-AU 1 64667315 64667315 single base substitution G A upstream_gene_variant PACA-AU 1 64685782 64685782 single base substitution A C intron_variant PACA-AU 1 64685782 64685782 single base substitution A C upstream_gene_variant PACA-AU 1 64685925 64685925 insertion of <=200bp - GA intron_variant PACA-AU 1 64685925 64685925 insertion of <=200bp - GA upstream_gene_variant PACA-AU 1 64688908 64688908 single base substitution G A intron_variant PACA-AU 1 64696689 64696689 deletion of <=200bp T - intron_variant PACA-AU 1 64698970 64698970 single base substitution G A intron_variant PACA-AU 1 64704796 64704796 single base substitution A G intron_variant PACA-AU 1 64704856 64704856 single base substitution A G intron_variant PACA-AU 1 64705388 64705388 single base substitution T C intron_variant PACA-AU 1 64715419 64715419 deletion of <=200bp A - intron_variant PACA-AU 1 64715889 64715889 single base substitution G A intron_variant PACA-AU 1 64716116 64716116 insertion of <=200bp - A intron_variant PACA-AU 1 64716212 64716212 single base substitution G C intron_variant PACA-AU 1 64716544 64716544 single base substitution A C intron_variant PACA-AU 1 64716684 64716684 single base substitution C T intron_variant PACA-AU 1 64719300 64719300 single base substitution T C intron_variant PACA-AU 1 64725283 64725283 single base substitution T C intron_variant PACA-AU 1 64732413 64732413 single base substitution G A intron_variant PACA-AU 1 64734547 64734548 deletion of <=200bp AA - downstream_gene_variant PACA-AU 1 64734723 64734723 single base substitution G A downstream_gene_variant PACA-CA 1 64668813 64668813 single base substitution G A upstream_gene_variant PACA-CA 1 64669279 64669279 single base substitution C T upstream_gene_variant PACA-CA 1 64676020 64676020 single base substitution C T intron_variant PACA-CA 1 64676020 64676020 single base substitution C T upstream_gene_variant PACA-CA 1 64677312 64677312 single base substitution C T intron_variant PACA-CA 1 64677312 64677312 single base substitution C T upstream_gene_variant PACA-CA 1 64678143 64678143 single base substitution C A intron_variant PACA-CA 1 64678143 64678143 single base substitution C A upstream_gene_variant PACA-CA 1 64678537 64678537 single base substitution A G intron_variant PACA-CA 1 64678537 64678537 single base substitution A G upstream_gene_variant PACA-CA 1 64678644 64678644 single base substitution A T intron_variant PACA-CA 1 64678644 64678644 single base substitution A T upstream_gene_variant PACA-CA 1 64681388 64681388 single base substitution C A intron_variant PACA-CA 1 64681987 64681987 single base substitution T G intron_variant PACA-CA 1 64681987 64681987 single base substitution T G upstream_gene_variant PACA-CA 1 64683248 64683248 single base substitution A T intron_variant PACA-CA 1 64683248 64683248 single base substitution A T upstream_gene_variant PACA-CA 1 64683978 64683978 single base substitution G C intron_variant PACA-CA 1 64683978 64683978 single base substitution G C upstream_gene_variant PACA-CA 1 64684722 64684722 single base substitution T C intron_variant PACA-CA 1 64684722 64684722 single base substitution T C upstream_gene_variant PACA-CA 1 64686790 64686790 single base substitution C A intron_variant PACA-CA 1 64687349 64687349 single base substitution A G intron_variant PACA-CA 1 64688072 64688072 single base substitution C T intron_variant PACA-CA 1 64688924 64688924 single base substitution C T intron_variant PACA-CA 1 64690000 64690000 single base substitution G A intron_variant PACA-CA 1 64696190 64696198 deletion of <=200bp CATCCTCTG - intron_variant PACA-CA 1 64702442 64702442 single base substitution T G intron_variant PACA-CA 1 64703370 64703370 single base substitution C A intron_variant PACA-CA 1 64706329 64706329 single base substitution T G intron_variant PACA-CA 1 64707569 64707569 single base substitution T A intron_variant PACA-CA 1 64708847 64708847 single base substitution C T intron_variant PACA-CA 1 64710033 64710033 single base substitution T C downstream_gene_variant PACA-CA 1 64710033 64710033 single base substitution T C intron_variant PACA-CA 1 64714507 64714507 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 64714507 64714507 insertion of <=200bp - T intron_variant PACA-CA 1 64715506 64715506 single base substitution A G intron_variant PACA-CA 1 64716217 64716217 single base substitution A C intron_variant PACA-CA 1 64723509 64723509 single base substitution A C intron_variant PACA-CA 1 64725984 64725984 single base substitution C T intron_variant PACA-CA 1 64726680 64726680 single base substitution A C downstream_gene_variant PACA-CA 1 64726680 64726680 single base substitution A C intron_variant PACA-CA 1 64730795 64730795 single base substitution C T downstream_gene_variant PACA-CA 1 64730795 64730795 single base substitution C T intron_variant PACA-CA 1 64734920 64734920 single base substitution C T downstream_gene_variant PACA-CA 1 64735061 64735061 single base substitution T C downstream_gene_variant PACA-CA 1 64736984 64736984 single base substitution G A downstream_gene_variant PAEN-AU 1 64669221 64669221 single base substitution G A upstream_gene_variant PAEN-AU 1 64675962 64675962 single base substitution C A intron_variant PAEN-AU 1 64675962 64675962 single base substitution C A upstream_gene_variant PAEN-AU 1 64685925 64685925 insertion of <=200bp - GA intron_variant PAEN-AU 1 64685925 64685925 insertion of <=200bp - GA upstream_gene_variant PAEN-AU 1 64704848 64704848 single base substitution A G intron_variant PAEN-AU 1 64724326 64724326 single base substitution A G intron_variant PAEN-IT 1 64695663 64695663 single base substitution C T intron_variant PBCA-DE 1 64673978 64673978 single base substitution G A intron_variant PBCA-DE 1 64689706 64689706 single base substitution G A intron_variant PBCA-DE 1 64690619 64690620 deletion of <=200bp CA - intron_variant PBCA-DE 1 64691198 64691198 single base substitution T C intron_variant PBCA-DE 1 64707049 64707049 single base substitution C A intron_variant PBCA-DE 1 64717603 64717603 single base substitution G A intron_variant PBCA-DE 1 64720955 64720955 insertion of <=200bp - TAAT intron_variant PRAD-CA 1 64687241 64687241 single base substitution G A intron_variant PRAD-CA 1 64704763 64704763 single base substitution G A intron_variant PRAD-CA 1 64728641 64728641 single base substitution T C downstream_gene_variant PRAD-CA 1 64728641 64728641 single base substitution T C intron_variant PRAD-UK 1 64673160 64673160 single base substitution T C intron_variant PRAD-UK 1 64679088 64679088 single base substitution G A intron_variant PRAD-UK 1 64679088 64679088 single base substitution G A upstream_gene_variant PRAD-UK 1 64683739 64683739 single base substitution T G intron_variant PRAD-UK 1 64683739 64683739 single base substitution T G upstream_gene_variant PRAD-UK 1 64690691 64690691 single base substitution C T intron_variant PRAD-UK 1 64723000 64723000 single base substitution T C intron_variant PRAD-UK 1 64726633 64726633 insertion of <=200bp - A downstream_gene_variant PRAD-UK 1 64726633 64726633 insertion of <=200bp - A intron_variant PRAD-UK 1 64728525 64728525 single base substitution A G downstream_gene_variant PRAD-UK 1 64728525 64728525 single base substitution A G intron_variant PRAD-UK 1 64734918 64734918 single base substitution T C downstream_gene_variant PRAD-UK 1 64737654 64737654 single base substitution T C downstream_gene_variant PRAD-US 1 64698334 64698334 single base substitution T C intron_variant PRAD-US 1 64698334 64698334 single base substitution T C splice_donor_variant RECA-EU 1 64678259 64678259 single base substitution A T intron_variant RECA-EU 1 64678259 64678259 single base substitution A T upstream_gene_variant RECA-EU 1 64680460 64680460 single base substitution T A intron_variant RECA-EU 1 64680460 64680460 single base substitution T A upstream_gene_variant RECA-EU 1 64688258 64688258 single base substitution C G intron_variant RECA-EU 1 64690949 64690949 single base substitution G T intron_variant RECA-EU 1 64696699 64696699 single base substitution G T intron_variant RECA-EU 1 64711248 64711248 single base substitution G A downstream_gene_variant RECA-EU 1 64711248 64711248 single base substitution G A intron_variant RECA-EU 1 64712351 64712351 single base substitution G T downstream_gene_variant RECA-EU 1 64712351 64712351 single base substitution G T intron_variant RECA-EU 1 64712578 64712578 single base substitution A T downstream_gene_variant RECA-EU 1 64712578 64712578 single base substitution A T intron_variant RECA-EU 1 64732131 64732131 single base substitution A C intron_variant SKCA-BR 1 64667049 64667049 single base substitution C G upstream_gene_variant SKCA-BR 1 64667089 64667089 single base substitution C T upstream_gene_variant SKCA-BR 1 64667321 64667321 single base substitution G A upstream_gene_variant SKCA-BR 1 64667653 64667653 single base substitution C T upstream_gene_variant SKCA-BR 1 64667950 64667950 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 1 64667951 64667951 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 1 64669032 64669032 single base substitution G A upstream_gene_variant SKCA-BR 1 64669341 64669341 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 1 64669341 64669341 single base substitution T C upstream_gene_variant SKCA-BR 1 64670436 64670436 single base substitution G A intron_variant SKCA-BR 1 64672478 64672478 single base substitution A G synonymous_variant T60T 180A>G SKCA-BR 1 64675356 64675356 single base substitution A C intron_variant SKCA-BR 1 64675417 64675417 single base substitution A T intron_variant SKCA-BR 1 64675566 64675566 single base substitution A C intron_variant SKCA-BR 1 64675566 64675566 single base substitution A C upstream_gene_variant SKCA-BR 1 64677237 64677237 single base substitution C T intron_variant SKCA-BR 1 64677237 64677237 single base substitution C T upstream_gene_variant SKCA-BR 1 64677853 64677853 single base substitution A G intron_variant SKCA-BR 1 64677853 64677853 single base substitution A G upstream_gene_variant SKCA-BR 1 64679087 64679087 single base substitution C T intron_variant SKCA-BR 1 64679087 64679087 single base substitution C T upstream_gene_variant SKCA-BR 1 64682094 64682094 single base substitution G A intron_variant SKCA-BR 1 64682094 64682094 single base substitution G A upstream_gene_variant SKCA-BR 1 64684618 64684618 single base substitution C T intron_variant SKCA-BR 1 64684618 64684618 single base substitution C T upstream_gene_variant SKCA-BR 1 64684739 64684739 single base substitution C T intron_variant SKCA-BR 1 64684739 64684739 single base substitution C T upstream_gene_variant SKCA-BR 1 64684966 64684966 single base substitution C T intron_variant SKCA-BR 1 64684966 64684966 single base substitution C T upstream_gene_variant SKCA-BR 1 64686828 64686828 single base substitution C T intron_variant SKCA-BR 1 64688154 64688154 single base substitution G A intron_variant SKCA-BR 1 64689481 64689481 single base substitution G A intron_variant SKCA-BR 1 64690405 64690405 insertion of <=200bp - CA intron_variant SKCA-BR 1 64693442 64693442 single base substitution C T intron_variant SKCA-BR 1 64695318 64695318 single base substitution G A intron_variant SKCA-BR 1 64696987 64696987 single base substitution C T intron_variant SKCA-BR 1 64699947 64699947 single base substitution C T intron_variant SKCA-BR 1 64701149 64701149 single base substitution G A intron_variant SKCA-BR 1 64701505 64701505 single base substitution C T intron_variant SKCA-BR 1 64702020 64702020 single base substitution C T intron_variant SKCA-BR 1 64703187 64703187 single base substitution C T intron_variant SKCA-BR 1 64703409 64703409 single base substitution A G intron_variant SKCA-BR 1 64704562 64704562 single base substitution G A intron_variant SKCA-BR 1 64704781 64704781 single base substitution A G intron_variant SKCA-BR 1 64704804 64704861 deletion of <=200bp AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAG - intron_variant SKCA-BR 1 64704805 64704805 insertion of <=200bp - AG intron_variant SKCA-BR 1 64704812 64704840 deletion of <=200bp GAAGAAGAAGAAGAAGAAGAAGAAGAAGA - intron_variant SKCA-BR 1 64704819 64704821 deletion of <=200bp AAG - intron_variant SKCA-BR 1 64704820 64704820 single base substitution A G intron_variant SKCA-BR 1 64704824 64704840 deletion of <=200bp GAAGAAGAAGAAGAAGA - intron_variant SKCA-BR 1 64704833 64704840 deletion of <=200bp GAAGAAGA - intron_variant SKCA-BR 1 64704839 64704840 deletion of <=200bp GA - intron_variant SKCA-BR 1 64704845 64704845 single base substitution A G intron_variant SKCA-BR 1 64704857 64704858 deletion of <=200bp AG - intron_variant SKCA-BR 1 64704859 64704861 deletion of <=200bp AAG - intron_variant SKCA-BR 1 64705058 64705058 single base substitution T A intron_variant SKCA-BR 1 64705149 64705149 single base substitution C T intron_variant SKCA-BR 1 64709698 64709698 single base substitution A T intron_variant SKCA-BR 1 64711894 64711894 single base substitution C T downstream_gene_variant SKCA-BR 1 64711894 64711894 single base substitution C T intron_variant SKCA-BR 1 64713037 64713037 single base substitution T A downstream_gene_variant SKCA-BR 1 64713037 64713037 single base substitution T A intron_variant SKCA-BR 1 64716627 64716627 single base substitution A G intron_variant SKCA-BR 1 64716635 64716635 single base substitution C T intron_variant SKCA-BR 1 64718203 64718203 single base substitution C T intron_variant SKCA-BR 1 64719463 64719463 single base substitution G A intron_variant SKCA-BR 1 64719474 64719474 single base substitution A C intron_variant SKCA-BR 1 64719942 64719942 single base substitution G C intron_variant SKCA-BR 1 64720499 64720499 single base substitution A C intron_variant SKCA-BR 1 64721180 64721180 single base substitution G A intron_variant SKCA-BR 1 64721646 64721646 single base substitution C T intron_variant SKCA-BR 1 64722678 64722678 single base substitution G A intron_variant SKCA-BR 1 64724919 64724919 single base substitution G A intron_variant SKCA-BR 1 64725787 64725787 single base substitution A G intron_variant SKCA-BR 1 64729969 64729969 single base substitution G A downstream_gene_variant SKCA-BR 1 64729969 64729969 single base substitution G A intron_variant SKCA-BR 1 64731576 64731576 single base substitution C T intron_variant SKCA-BR 1 64733810 64733811 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 1 64733811 64733811 single base substitution C A downstream_gene_variant SKCA-BR 1 64734932 64734932 single base substitution G A downstream_gene_variant SKCA-BR 1 64736802 64736802 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 64737015 64737015 single base substitution C T downstream_gene_variant SKCA-BR 1 64737120 64737120 single base substitution T C downstream_gene_variant SKCA-BR 1 64737876 64737876 single base substitution A C downstream_gene_variant SKCM-US 1 64671346 64671346 single base substitution G A missense_variant E31K 91G>A SKCM-US 1 64671357 64671357 single base substitution G A missense_variant M34I 102G>A SKCM-US 1 64671363 64671363 single base substitution G A stop_gained W36* 108G>A SKCM-US 1 64672498 64672498 single base substitution C T missense_variant P67L 200C>T SKCM-US 1 64672524 64672524 single base substitution C T missense_variant P76S 226C>T SKCM-US 1 64698315 64698315 single base substitution A G exon_variant SKCM-US 1 64698315 64698315 single base substitution A G intron_variant SKCM-US 1 64698315 64698315 single base substitution A G missense_variant E193G 578A>G SKCM-US 1 64698315 64698315 single base substitution A G missense_variant E80G 239A>G SKCM-US 1 64707407 64707407 single base substitution G A exon_variant SKCM-US 1 64707407 64707407 single base substitution G A stop_gained W110* 329G>A SKCM-US 1 64707407 64707407 single base substitution G A stop_gained W223* 668G>A SKCM-US 1 64707407 64707407 single base substitution G A stop_gained W39* 116G>A STAD-US 1 64671363 64671363 single base substitution G T missense_variant W36C 108G>T STAD-US 1 64707368 64707368 single base substitution A G exon_variant STAD-US 1 64707368 64707368 single base substitution A G missense_variant Y210C 629A>G STAD-US 1 64707368 64707368 single base substitution A G missense_variant Y26C 77A>G STAD-US 1 64707368 64707368 single base substitution A G missense_variant Y97C 290A>G UCEC-US 1 64671404 64671404 single base substitution G A splice_donor_variant UCEC-US 1 64680564 64680564 single base substitution G T missense_variant D136Y 406G>T UCEC-US 1 64680564 64680564 single base substitution G T missense_variant D23Y 67G>T UCEC-US 1 64680564 64680564 single base substitution G T upstream_gene_variant UCEC-US 1 64709812 64709812 single base substitution G T intron_variant UCEC-US 1 64709812 64709812 single base substitution G T splice_acceptor_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BCM265T COSM4949971 c.636G>A p.W212* Substitution - Nonsense 1:64241692-64241692 + TCGA-FS-A4FC-06 COSM3491717 c.108G>A p.W36* Substitution - Nonsense 1:64205680-64205680 + HCC142T COSM3705983 c.380T>G p.L127W Substitution - Missense 1:64214855-64214855 + HCT15 COSM2238885 c.69T>C p.G23G Substitution - coding silent 1:64205641-64205641 + RK145_C01 COSM3700774 c.586A>G p.R196G Substitution - Missense 1:64232640-64232640 + TCGA-CM-5861-01 COSM3689806 c.595T>C p.L199L Substitution - coding silent 1:64232649-64232649 + CHEWS019 COSM4577518 c.277T>C p.L93L Substitution - coding silent 1:64210777-64210777 + TCGA-FW-A3R5-06 COSM3865973 c.91G>A p.E31K Substitution - Missense 1:64205663-64205663 + 2492729 COSM5726958 c.57C>T p.N19N Substitution - coding silent 1:64204107-64204107 + TCGA-AP-A059-01 COSM911508 c.148+1G>A p.? Unknown 1:64205721-64205721 + BD175T COSM5507706 c.233A>C p.H78P Substitution - Missense 1:64206848-64206848 + DU-145 COSM1667597 c.33A>T p.R11S Substitution - Missense 1:64204083-64204083 + ATL065 COSM5705522 c.467A>G p.D156G Substitution - Missense 1:64220868-64220868 + 61 COSM194105 c.227C>T p.P76L Substitution - Missense 1:64206842-64206842 + 49M COSM5593818 c.160C>T p.Q54* Substitution - Nonsense 1:64206775-64206775 + TCGA-CM-5861-01 COSM1343861 c.153A>G p.L51L Substitution - coding silent 1:64206768-64206768 + BCM265T COSM4949971 c.636G>A p.W212* Substitution - Nonsense 1:64241692-64241692 + ESOSCC160T COSM194105 c.227C>T p.P76L Substitution - Missense 1:64206842-64206842 + SC_9043 COSM5546802 c.570_577delAGCCACAG p.A191fs*>34 Deletion - Frameshift 1:64232624-64232631 + PD9574a COSM5775905 c.340-1G>C p.? Unknown 1:64214814-64214814 + PD7240a COSM5781920 c.431T>C p.L144P Substitution - Missense 1:64214906-64214906 + TCGA-CG-5733-01 COSM4009352 c.108G>T p.W36C Substitution - Missense 1:64205680-64205680 + 391 COSM3724065 c.252C>G p.H84Q Substitution - Missense 1:64210752-64210752 + TCGA-22-4601-01 COSM681505 c.11G>A p.R4K Substitution - Missense 1:64204061-64204061 + ML_73_T_01 COSM5033582 c.180A>G p.T60T Substitution - coding silent 1:64206795-64206795 + 587376 COSM1231559 c.46C>A p.L16I Substitution - Missense 1:64204096-64204096 + Pat_04_A COSM5847157 c.109G>A p.E37K Substitution - Missense 1:64205681-64205681 + TCGA-BR-4370-01 COSM4009354 c.629A>G p.Y210C Substitution - Missense 1:64241685-64241685 + S02277 COSM5682980 c.493C>A p.R165S Substitution - Missense 1:64220894-64220894 + YUAVEY COSM1687829 c.102G>A p.M34I Substitution - Missense 1:64205674-64205674 + TCGA-EE-A181-06 COSM3491721 c.226C>T p.P76S Substitution - Missense 1:64206841-64206841 + ESCC_157 COSM5646137 c.524C>T p.S175L Substitution - Missense 1:64232578-64232578 + TCGA-EE-A2GR-06 COSM3491719 c.200C>T p.P67L Substitution - Missense 1:64206815-64206815 + TCGA-F4-6461-01 COSM3689808 c.636G>T p.W212C Substitution - Missense 1:64241692-64241692 + TCGA-AP-A0LM-01 COSM911510 c.678-1G>T p.? Unknown 1:64244129-64244129 + GCT57 COSM5749861 c.345G>A p.M115I Substitution - Missense 1:64214820-64214820 + TCGA-AP-A0LM-01 COSM911509 c.406G>T p.D136Y Substitution - Missense 1:64214881-64214881 + TCGA-FW-A3R5-06 COSM3865976 c.668G>A p.W223* Substitution - Nonsense 1:64241724-64241724 + TCGA-KK-A59V-01 COSM4878349 c.595+2T>C p.? Unknown 1:64232651-64232651 + cSCCP5 COSM137773 c.137C>T p.S46L Substitution - Missense 1:64205709-64205709 + TCGA-ER-A19G-06 COSM3491723 c.578A>G p.E193G Substitution - Missense 1:64232632-64232632 + TCGA-FW-A3R5-06 COSM1687829 c.102G>A p.M34I Substitution - Missense 1:64205674-64205674 + TCGA-AA-A010-01 COSM286236 c.132G>T p.Q44H Substitution - Missense 1:64205704-64205704 + TCGA-G4-6628-01 COSM1343866 c.619G>A p.G207R Substitution - Missense 1:64241675-64241675 + HCC142 COSM3705983 c.380T>G p.L127W Substitution - Missense 1:64214855-64214855 + tumor_4177376 COSM3356611 c.149-8T>A p.? Unknown 1:64206756-64206756 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.388742;Hs.388746 1p31.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGT - SpliceDonorDeletion . c.677+2_677+5delTAAG 1 64707415 GBM A C Missense p.T197P c.589A>C 1 64698326 MM A G Missense p.E193G c.578A>G 1 64698315 CM A G Missense p.Y210C c.629A>G 1 64707368 STAD A T 3-UTRSNV . c.678+26A>T 1 64709839 RCCC C T IntronicSNV . c.677+18C>T 1 64707434 STAD C T Missense p.P67L c.200C>T 1 64672498 CM C T Missense p.P76S c.226C>T 1 64672524 CM C T Missense p.S61L c.182C>T 1 64672480 CM G A Missense p.M33I c.99G>A 1 64671354 CM G A Missense p.R4K c.11G>A 1 64669744 LUSC G T Missense p.W36C c.108G>T 1 64671363 STAD T G Nonsense p.L225* c.674T>G 1 64707413 CM